Gene Detail

Gene Symbol ATM
Synonyms AT1 | ATA | ATC | ATD | ATDC | ATE | TEL1 | TELO1
Gene Description ATM, ataxia-telangiectasia mutated protein kinase, is a member of the serine-threonine kinase family and coordinates cellular responses to DNA damage through activation of distinct DNA repair and signaling pathways (PMID: 22079189). ATM somatic mutations are associated with endometrial, colon, pancreatic, breast cancers (PMID: 27283171) and urothelial cancer (PMID: 29682192).
Entrez Id 472
Chromosome 11
Map Location 11q22.3
Canonical Transcript NM_000051

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
R2034* nonsense loss of function - predicted ATM R2034* results in a premature truncation of the Atm protein at amino acid 2034 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R2034* is predicted to lead to a loss of Atm protein function.
S978C missense unknown ATM S978C does not lie within any known functional domains of the Atm protein (UniProt.org). S978C has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
G2023R missense unknown ATM G2023R lies within the FAT domain of the Atm protein (UniProt.org). G2023R has been identified in the scientific literature (PMID: 25625042, PMID: 12149228, PMID: 23091097), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
L942I missense unknown ATM L942I does not lie within any known functional domains of the Atm protein (UniProt.org). L942I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
L1675F missense unknown ATM L1675F does not lie within any known functional domains of the Atm protein (UniProt.org). L1675F has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
D1853V missense unknown ATM D1853V does not lie within any known functional domains of the Atm protein (UniProt.org). D1853V is a common Atm polymorphism (PMID: 15280931), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
H2872R missense unknown ATM H2872R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). H2872R has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
R337C missense unknown ATM R337C does not lie within any known functional domains of the Atm protein (UniProt.org). R337C has been identified in sequencing studies (PMID: 27334835, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
Y2755C missense unknown ATM Y2755C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Y2755C has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
G1459R missense unknown ATM G1459R does not lie within any known functional domains of the Atm protein (UniProt.org). G1459R has been identified in sequencing studies (PMID: 26214590, PMID: 19781682), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
I1681V missense loss of function ATM I1681V does not lie within any known functional domains of the Atm protein (UniProt.org). I1681V confers a loss of function to the Atm protein as demonstrated by reduced Atm and Tp53 phosphorylation (PMID: 16014569).
R248Q missense unknown ATM R248Q does not lie within any known functional domains of the Atm protein (UniProt.org). R248Q has been identified in sequencing studies (PMID: 24145436, PMID: 19781682), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
E1666* nonsense loss of function - predicted ATM E1666* results in a premature truncation of the Atm protein at amino acid 1666 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E1666* is predicted to lead to a loss of Atm protein function.
R2598Q missense unknown ATM R2598Q does not lie within any known functional domains of the Atm protein (UniProt.org). R2598Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
T1880R missense unknown ATM T1880R does not lie within any known functional domains of the Atm protein (UniProt.org). T1880R has been identified in sequencing studies (PMID: 25275298), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
N2603S missense unknown ATM N2603S does not lie within any known functional domains of the Atm protein (UniProt.org). N2603S has not been characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
S3027I missense unknown ATM S3027I lies within the FATC domain of the Atm protein (UniProt.org). S3027I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
E390* nonsense loss of function - predicted ATM E390* results in a premature truncation of the Atm protein at amino acid 390 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E390* is predicted to lead to a loss of Atm protein function.
S978fs frameshift loss of function - predicted ATM S978fs results in a change in the amino acid sequence of the Atm protein beginning at 978 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), S978fs is predicted to lead to a loss of Atm function.
W412* nonsense loss of function - predicted ATM W412* results in a premature truncation of the Atm protein at amino acid 412 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), W412* is predicted to lead to a loss of Atm protein function.
Q1579fs frameshift loss of function - predicted ATM Q1579fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1579 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q1579fs is predicted to lead to a loss of Atm protein function.
M2405L missense unknown ATM M2405L lies within the FAT domain of the Atm protein (UniProt.org). M2405L has been identified in sequencing studies (PMID: 22952040), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
D2725V missense unknown ATM D2725V lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2725V has been identified in the scientific literature (PMID: 11756177), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
R337S missense loss of function ATM R337S does not lie within any known functional domains of the Atm protein (UniProt.org). R337S confers a loss of function to the Atm protein as demonstrated by reduced phosphorylation of Atm target proteins, Tp53 and Smc1 (PMID: 16014569).
K3043R missense unknown ATM K3043R lies within the FATC domain of the Atm protein (UniProt.org). K3043R has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
E2272* nonsense loss of function - predicted ATM E2272* results in a premature truncation of the Atm protein at amino acid E2272 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E2272* is predicted to lead to a loss of Atm protein function.
V2951F missense unknown ATM V2951F lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). V2951F has been identified in sequencing studies (PMID: 22832583), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
D2870Y missense unknown ATM D2870Y lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2870Y has been identified in sequencing studies (PMID: 22610119), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
T2902fs frameshift loss of function - predicted ATM T2902fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2902 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the FATC domain, T2902fs is predicted to lead to a loss of Atm protein function (PMID: 16603769).
S978P missense unknown ATM S978P does not lie within any known functional domains of the Atm protein (UniProt.org). S978P has been identified in sequencing studies (PMID: 16631465), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
V630M missense unknown ATM V630M does not lie within any known functional domains of the Atm protein (UniProt.org). V630M has been identified in sequencing studies (PMID: 27468087), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2018).
Q2762R missense unknown ATM Q2762R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Q2762R has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
R1730* nonsense loss of function - predicted ATM R1730* results in a premature truncation of the Atm protein at amino acid 1730 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R1730* is predicted to lead to a loss of Atm protein function.
S978A missense unknown ATM S978A does not lie within any known functional domains of the Atm protein (UniProt.org). S978A has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
E871K missense unknown ATM E871K does not lie within any known functional domains of the Atm protein (UniProt.org). E871K has been identified in sequencing studies (PMID: 28487787), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
over exp none no effect ATM over exp indicates an over expression of the Atm protein and/or mRNA. However, the mechanism causing the over expression is unspecified.
N2875T missense unknown ATM N2875T lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). N2875T has been identified in sequencing studies (PMID: 22634756), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
F570L missense unknown ATM F570L does not lie within any known functional domains of the Atm protein (UniProt.org). F570L has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
K1410* nonsense loss of function - predicted ATM K1410* results in a premature truncation of the Atm protein at amino acid 1410 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), K1410* is predicted to lead to a loss of Atm protein function.
T2934I missense unknown ATM T2934I lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). T2934I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
W57* nonsense loss of function - predicted ATM W57* results in a premature truncation of the Atm protein at amino acid 57 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), W57* is predicted to result in a loss of Atm protein function.
P1054R missense no effect - predicted ATM P1054R does not lie within any known functional domains of the Atm protein (UniProt.org). P1054R has been predicted to be deleterious in in-silico models (PMID: 17000706, PMID: 18573109), however, has kinase activity equivalent to wild-type Atm in cell culture (PMID: 18573109).
S99G missense unknown ATM S99G does not lie within any known functional domains of the Atm protein (UniProt.org). S99G has been identified in sequencing studies (PMID: 19781682), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
D1853N missense unknown ATM D1853N does not lie within any known functional domains of the Atm protein (Uniprot.org). D1853N is a common Atm polymorphism (PMID: 20799949), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
L991S missense unknown ATM L991S does not lie within any known functional domains of the Atm protein (UniProt.org). L991S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
A1742P missense loss of function - predicted ATM A1742P does not lie within any known functional domains of the Atm protein (UniProt.org). A1742P is predicted to confer a loss of function to the Atm protein, as demonstrated by defective kinase activity (PMID: 16014569).
R2459C missense unknown ATM R2459C lies within the FAT domain of the Atm protein (UniProt.org). R2459C is associated with lack of ATM expression in the presence of P292R (PMID: 23585524), but has not been individually characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
R805* nonsense loss of function - predicted ATM R805* results in a premature truncation of the Atm protein at amino acid 805 of 3056 (UniProt.org). Due to the loss of all known functional domains of the Atm protein (UniProt.org), R805* is predicted to lead to a loss of Atm protein function.
E1978* nonsense loss of function - predicted ATM E1978* results in a premature truncation of the Atm protein at amino acid 1978 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E1978* is predicted to lead to a loss of Atm protein function.
F1683V missense unknown ATM F1683V does not lie within any known functional domains of the Atm protein (UniProt.org). F1683V has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
A1309T missense unknown ATM A1309T does not lie within any known functional domains of the Atm protein (UniProt.org). A1309T has been identified in sequencing studies (PMID: 16461462), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
S131* nonsense loss of function - predicted ATM S131* results in a premature truncation of the Atm protein at amino acid 131 of 3056 (UniProt.org). Due to the loss of all known functional domains of the Atm protein (UniProt.org), S131* is predicted to lead to a loss of Atm protein function.
C430S missense unknown ATM C430S does not lie within any known functional domains of the Atm protein (UniProt.org). C430S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
R337H missense unknown ATM R337H does not lie within any known functional domains of the Atm protein (UniProt.org). R337H has been identified in sequencing studies (PMID: 24997986, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
V2439A missense unknown ATM V2439A lies within the FAT domain of the Atm protein (UniProt.org). V2439A has been identified in the scientific literature (PMID: 12810666), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
L822V missense unknown ATM L822V does not lie within any known functional domains of the Atm protein (UniProt.org). L822V has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
R1466* nonsense loss of function - predicted ATM R1466* results in a premature truncation of the Atm protein at amino acid 1466 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R1466* is predicted to lead to a loss of Atm protein function.
T2947S missense loss of function - predicted ATM T2947S (also referred to as T2946S) lies within the PI3K/PI4K protein kinase domain of the Atm protein (UniProt.org). T2947S is predicted to confer a loss of function to the Atm protein, as demonstrated by defective kinase activity (PMID: 16014569).
L1408I missense unknown ATM L1408I does not lie within any known functional domains of the Atm protein (UniProt.org). L1408I has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
R1730Q missense unknown ATM R1730Q does not lie within any known functional domains of the Atm protein (UniProt.org). R1730Q has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
L2890V missense loss of function - predicted ATM L2890V lies within the PI3K/PI4K protein kinase domain of the Atm protein (UniProt.org). L2890V is predicted to confer a loss of function to the Atm protein, as demonstrated by defective Tp53 DNA damage response (PMID: 23585524).
D2395V missense unknown ATM D2395V lies within the FAT domain of the Atm protein (UniProt.org). D2395V has been identified in sequencing studies (PMID: 22952040), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
R1150I missense unknown ATM R1150I does not lie within any known functional domains of the Atm protein (UniProt.org). R1150I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
inact mut unknown loss of function ATM inact mut indicates that this variant results in a loss of function of the Atm protein. However, the specific amino acid change has not been identified.
L2780R missense unknown ATM L2780R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). L2780R has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
D2721N missense unknown ATM D2721N lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2721N has been identified in sequencing studies (PMID: 24069199), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
F897I missense unknown ATM F897I does not lie within any known functional domains of the Atm protein (UniProt.org). F897I has been identified in sequencing studies (PMID: 28652578), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
R3047* nonsense loss of function - predicted ATM R3047* results in a premature truncation of the Atm protein at amino acid 3047 of 3056 (UniProt.org). Due to the loss of the FATC domain, R3047* is predicted to lead to a loss of Atm protein function (PMID: 16603769).
mutant unknown unknown ATM mutant indicates an unspecified mutation in the ATM gene.
W2845C missense unknown ATM W2845C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). W2845C has been identified in sequencing studies (PMID: 25186949), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
D2720H missense unknown ATM D2720H lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2720H has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
G2695S missense unknown ATM G2695S does not lie within any known functional domains of the Atm protein (UniProt.org). G2695S has been identified in sequencing studies (PMID: 25885250), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
I1849fs frameshift loss of function - predicted ATM I1849fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1849 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), I1849fs is predicted to lead to a loss of Atm protein function.
R2032K missense unknown ATM R2032K lies within the FAT domain of the Atm protein (UniProt.org). R2032K results in aberrant splicing of ATM mRNA, resulting in skipping of exon 43, which has unknown functional significance (PMID: 9887333).
V2119fs frameshift loss of function - predicted ATM V2119fs results in a change in the amino acid sequence of the Atm protein beginning at 2119 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the PI3K/PI4K and FATC domains (UniProt.org), V2119fs is predicted to lead to a loss of Atm protein function.
A2622T missense unknown ATM A2622T does not lie within any known functional domains of the Atm protein (UniProt.org). A2622T has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
L804fs frameshift loss of function - predicted ATM L804fs results in a change in the amino acid sequence of the Atm protein beginning at 804 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), L804fs is predicted to lead to a loss of Atm protein function.
T1756I missense unknown ATM T1756I does not lie within any known functional domains of the Atm protein (UniProt.org). T1756I has been identified in the scientific literature (PMID: 24983367), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
L2077I missense unknown ATM L2077I lies within the FAT domain of the Atm protein (UniProt.org). L2077I has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
G2083* nonsense loss of function - predicted ATM G2083* results in a premature truncation of the Atm protein at amino acid 2083 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), G2083* is predicted to lead to a loss of Atm protein function.
F2839L missense unknown ATM F2839L lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). F2839L has been identified in sequencing studies (PMID: 24951259, PMID: 25957691), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
N1356D missense unknown ATM N1356D does not lie within any known functional domains of the Atm protein (UniProt.org). N1356D has been identified in sequencing studies (PMID: 19781682), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
D1963N missense unknown ATM D1963N lies within the FAT domain of the Atm protein (UniProt.org). D1963N has been identified in the scientific literature (PMID: 24983367), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
R2443P missense unknown ATM R2443P lies within the FAT domain of the Atm protein (UniProt.org). R2443P has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
D2721Y missense unknown ATM D2721Y lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2721Y has been identified in sequencing studies (PMID: 26675346), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
P2842L missense unknown ATM P2842L lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). P2842L has been identified in sequencing studies (PMID: 24185509, PMID: 27959900), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
D351Y missense unknown ATM D351Y does not lie within any known functional domains of the Atm protein (UniProt.org). D351Y has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
D1682Y missense loss of function - predicted ATM D1682Y does not lie within any known functional domains of the Atm protein (UniProt.org). D1682Y is predicted to confer a loss of function to the Atm protein, as demonstrated by defective kinase activity (PMID: 16014569).
L1046R missense unknown ATM L1046R does not lie within any known functional domains of the Atm protein (UniProt.org). L1046R has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
E2904K missense unknown ATM E2904K lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). E2904K has been identified in sequencing studies (PMID: 28667006), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
S2407* nonsense loss of function - predicted ATM S2407* results in a premature truncation of the Atm protein at amino acid 2407 of 3056 (UniProt.org). Due to the loss of the PI3K/PI4K protein kinase and FATC domains (UniProt.org), S2407* is predicted to lead to a loss of Atm protein function.
F2140V missense unknown ATM F2140V lies within the FAT domain of the Atm protein (UniProt.org). F2140V has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
L1939V missense unknown ATM L1939V does not lie within any known functional domains of the Atm protein (UniProt.org). L1939V has been identified in sequencing studies (PMID: 20054297), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
N2875K missense unknown ATM N2875K lies within the PI3K/PI4K protein kinase domain of the Atm protein (UniProt.org). N2875K results in kinase dead Atm in the context of ATM D2780A (PMID: 17157789) and therefore, the effect on Atm protein function is unknown.
E522* nonsense loss of function - predicted ATM E522* results in a premature truncation of the Atm protein at amino acid 522 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E522* is predicted to lead to a loss of Atm protein function.
P178S missense unknown ATM P178S does not lie within any known functional domains of the Atm protein (UniProt.org). P178S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
W3052C missense unknown ATM W3052C lies within the FATC domain of the Atm protein (UniProt.org). W3052C has been identified in sequencing studies (PMID: 26837699), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
S333F missense unknown ATM S333F does not lie within any known functional domains of the Atm protein (UniProt.org). S333F has been identified in the scientific literature (PMID: 25589003, PMID: 16914028, PMID: 12673804), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
T2743M missense unknown ATM T2743M lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). T2743M has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2018).
R3008C missense loss of function - predicted ATM R3008C lies within the PI3K/PI4K protein kinase domain of the Atm protein (UniProt.org). R3008C is predicted to confer a loss of function to the Atm protein, as demonstrated by the inability to phosphorylate downstream Atm targets (PMID: 10706620).
L2722M missense unknown ATM L2722M lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). L2722M has not been characterized in the scientific literature and therefore, its effect on Atm protein function (PubMed, Jul 2018).
L348_M349insYIV insertion unknown ATM L348_M349insYIV results in the insertion of three amino acids in the Atm protein between amino acids 348 and 349 (UniProt.org). L348_M349insYIV has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
L2995I missense unknown ATM L2995I does not lie within any known functional domains of the Atm protein (UniProt.org). L2995I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
G2695A missense unknown ATM G2695A does not lie within any known functional domains of the Atm protein (UniProt.org). G2695A has been identified in sequencing studies (PMID: 23407552, PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
N914S missense unknown ATM N914S does not lie within any known functional domains of the Atm protein (UniProt.org). N914S has been identified in sequencing studies (PMID: 28652578), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
L2427P missense loss of function - predicted ATM L2427P lies within the FAT domain of the Atm protein (UniProt.org). L2427P is predicted to confer a loss of function to the Atm protein, as demonstrated by defective Tp53 DNA damage response (PMID: 23585524).
L2492R missense unknown ATM L2492R lies within the FAT domain of the Atm protein (UniProt.org). L2492R has been identified in sequencing studies (PMID: 29449575), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
T1350M missense unknown ATM T1350M does not lie within any known functional domains of the Atm protein (UniProt.org). T1350M has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
K468fs frameshift loss of function - predicted ATM K468fs results in a change in the amino acid sequence of the Atm protein beginning at 468 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), K468fs is predicted to lead to a loss of Atm protein function.
L2332P missense unknown ATM L2332P lies within the FAT domain of the Atm protein (UniProt.org). L2332P has been identified in the scientific literature (PMID: 25625042), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
Q2442P missense unknown ATM Q2442P lies within the FAT domain of the Atm protein (UniProt.org). Q2442P has been identified in sequencing studies (PMID: 22634756), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
P2353H missense unknown ATM P2353H lies within the FAT domain of the Atm protein (UniProt.org). P2353H has not been characterized in the scientific literature and therefore, its effect Atm protein function is unknown (PubMed, Jul 2018).
S2812Y missense unknown ATM S2812Y lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). S2812Y has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
R3008H missense loss of function - predicted ATM R3008H lies within the PI3K/PI4K protein kinase domain of the Atm protein (UniProt.org). R3008H is predicted to confer a loss of function to the Atm protein, as demonstrated by defective Tp53 DNA damage response (PMID: 23585524).
S1691R missense unknown ATM S1691R does not lie within any known functional domains of the Atm protein (UniProt.org). S1691R has been identified in the scientific literature (PMID: 16652348), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
del deletion loss of function ATM del indicates a deletion of the ATM gene.
P604S missense unknown ATM P604S does not lie within any known functional domains of the Atm protein (UniProt.org). P604S has been identified in the scientific literature (PMID: 28830922, PMID: 28591191, PMID: 25846456), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
E848Q missense unknown ATM E848Q does not lie within any known functional domains of the Atm protein (UniProt.org). E848Q has been identified in sequencing studies (PMID: 16140923), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
C730Y missense unknown ATM C730Y does not lie within any known functional domains of the Atm protein (UniProt.org). C730Y has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
V60F missense unknown ATM V60F does not lie within any known functional domains of the Atm protein (UniProt.org). V60F has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
A3006T missense unknown ATM A3006T does not lie within any known functional domains of the Atm protein (UniProt.org). A3006T has been identified in sequencing studies (PMID: 23415222), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
S719* nonsense loss of function - predicted ATM S719* results in a premature truncation of the Atm protein at amino acid 719 of 3056 (UniProt.org). Due to the loss of all known functional domains of the Atm protein (UniProt.org), S719* is predicted to lead to a loss of Atm protein function.
G2891R missense unknown ATM G2891R lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). G2891R has been identified in sequencing studies (PMID: 24825865), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
G2695C missense unknown ATM G2695C does not lie within any known functional domains of the Atm protein (UniProt.org). G2695C has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
S1403fs frameshift loss of function - predicted ATM S1403fs results in a change in the amino acid sequence of the Atm protein beginning at 1403 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of 2 protein kinase domains and the FATC domain (UniProt.org), S1403fs is predicted to lead to a loss of Atm function.
I2888T missense unknown ATM I2888T lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). I2888T has been identified in the scientific literature (PMID: 12697903, PMID: 23091097), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
D2720N missense unknown ATM D2720N lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2720N has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
P2353T missense unknown ATM P2353T lies within the FAT domain of the Atm protein (UniProt.org). P2353T has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
V278fs frameshift loss of function - predicted ATM V278fs results in a change in the amino acid sequence of the Atm protein beginning at aa 278 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), V278fs is predicted to lead to a loss of Atm function.
G514D missense unknown ATM G514D does not lie within any known functional domains of the Atm protein (UniProt.org). G514D has been identified in sequencing studies (PMID: 11443540, PMID: 12473594), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
H2038Y missense unknown ATM H2038Y lies within the FAT domain of the Atm protein (UniProt.org). H2038Y has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
K2756* nonsense loss of function - predicted ATM K2756* results in a premature truncation of the Atm protein at amino acid 2756 of 3056 (UniProt.org). Due to the loss of the FATC domain, R2756* is predicted to lead to a loss of Atm protein function (PMID: 16603769).
L2307F missense unknown ATM L2307F lies within the FAT domain of the Atm protein (UniProt.org). L2307F has been identified in the scientific literature (PMID: 25625042, PMID: 25589003), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
A1950T missense unknown ATM A1950T does not lie within any known functional domains of the Atm protein (UniProt.org). A1950T has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
S1455R missense loss of function ATM S1455R does not lie within any known functional domains of the Atm protein (UniProt.org). S1455R confers a loss of function to the Atm protein as demonstrated by impaired phosphorylation of p53 and Chek2 in cultured cells (PMID: 12969974).
R250* nonsense loss of function - predicted ATM R250* results in a premature truncation of the Atm protein at amino acid 250 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R250* is predicted to lead to a loss of Atm protein function.
P2699S missense loss of function - predicted ATM P2699S lies within the ATP-binding pocket of the Atm protein (PMID: 21993670). P2699S is predicted to result in a loss of ATM kinase activity in molecular models (PMID: 21993670).
Y1124F missense unknown ATM Y1124F does not lie within any known functional domains of the Atm protein (UniProt.org). Y1124F has been identified in sequencing studies (PMID: 28779002), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
I2888L missense unknown ATM I2888L lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). I2888L has been identified in sequencing studies (PMID: 26487540), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
positive unknown unknown ATM positive indicates the presence of the ATM gene, mRNA, and/or protein.
R23Q missense unknown ATM R23Q does not lie within any known functional domains of the Atm protein (UniProt.org). R23Q has been identified in sequencing studies (PMID: 26214590), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
R2691C missense unknown ATM R2691C does not lie within any known functional domains of the Atm protein (UniProt.org). R2691C is predicted to impair the kinase activity of Atm by structural modeling (PMID: 21993670), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
L1408F missense unknown ATM L1408F does not lie within any known functional domains of the Atm protein (UniProt.org). L1408F has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
V410A missense unknown ATM V410A does not lie within any known functional domains of the Atm protein (UniProt.org). V410A has been identified in sequencing studies (PMID: 25148578, PMID: 14695997), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
V1941L missense loss of function - predicted ATM V1941L lies within the FAT domain of the Atm protein (UniProt.org). V1941L demonstrates partially defective Atm kinase activity (PMID: 16014569), and thus is predicted to result in a loss of Atm protein function.
A1812P missense unknown ATM A1812P does not lie within any known functional domains of the Atm protein (UniProt.org). A1812P has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
V2424G missense loss of function - predicted ATM V2424G lies within the FAT domain of the Atm protein (UniProt.org). V2424G is predicted to confer a loss of function to the Atm protein, as demonstrated by decreased Atm kinase activity in cell culture (PMID: 11830610).
P80S missense unknown ATM P80S does not lie within any known functional domains of the Atm protein (UniProt.org). P80S has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
Y2954C missense unknown ATM Y2954C lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Y2954C has been identified in sequencing studies (PMID: 22634756, PMID: 29386642), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
D2725G missense unknown ATM D2725G lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). D2725G has been identified in sequencing studies (PMID: 24522528), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
R1466Q missense unknown ATM R1466Q does not lie within any known functional domains of the Atm protein (UniProt.org). R1466Q has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
R2993* nonsense loss of function - predicted ATM R2993* results in a premature truncation of the Atm protein at amino acid 2993 of 3056 (UniProt.org). Due to the loss of the FATC domain, R2993* is predicted to lead to a loss of Atm protein function (PMID: 16603769).
L1420F missense unknown ATM L1420F does not lie within any known functional domains of the Atm protein (UniProt.org). L1420F has been identified in the scientific literature (PMID: 20826828), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
F168L missense unknown ATM F168L does not lie within any known functional domains of the Atm protein (UniProt.org). F168L has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
L100W missense unknown ATM L100W does not lie within any known functional domains of the Atm protein (UniProt.org). L100W has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
N1650S missense loss of function ATM N1650S does not lie within any known functional domains of the Atm protein (UniProt.org). N1650S results in impaired Atm phosphorylation of Tp53 and Chek2 in cultured cells (PMID: 12969974).
Y2398C missense unknown ATM Y2398C lies within the FAT domain of the Atm protein (UniProt.org). Y2398C has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
I124V missense unknown ATM I124V does not lie within any known functional domains of the Atm protein (UniProt.org). I124V has been identified in sequencing studies (PMID: 12673804, PMID: 28076423), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
N2875S missense unknown ATM N2875S lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). N2875S has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
S707P missense unknown ATM S707P does not lie within any known functional domains of the Atm protein (UniProt.org). S707P has been associated with modest increase of breast cancer risk by epidemiological analysis (PMID: 20826828), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
R832C missense unknown ATM R832C does not lie within any known functional domains of the Atm protein (UniProt.org). R832C has been identified in sequencing studies (PMID: 21447618), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
H2872Q missense unknown ATM H2872Q lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). H2872Q has been identified in sequencing studies (PMID: 18948947), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
S49C missense unknown ATM S49C does not lie within any known functional domains of the Atm protein (UniProt.org). S49C has been associated with modest increase of breast cancer risk by epidemiological analysis (PMID: 20826828), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
R2443Q missense unknown ATM R2443Q lies within the FAT domain of the Atm protein (UniProt.org). R2443Q has been identified in sequencing studies (PMID: 27693639, PMID: 27175599), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
Q2066L missense unknown ATM Q2066L lies within the FAT domain of the Atm protein (UniProt.org). Q2066L has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
A2067D missense loss of function ATM A2067D lies within the FAT domain of the Atm protein (UniProt.org). A2067D confers a loss of function to Atm, resulting in reduced Atm protein expression and decreased Atm kinase activity in cell culture (PMID: 25077176).
E1072* nonsense loss of function - predicted ATM E1072* results in a premature truncation of the Atm protein at amino acid 1072 of 3056 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E1072* is predicted to result in a loss of Atm protein function.
P2665T missense unknown ATM P2665T does not lie within any known functional domains of the Atm protein (UniProt.org). P2665T has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
loss unknown loss of function ATM loss indicates loss of the ATM gene, mRNA or protein.
R221I missense unknown ATM R221I does not lie within any known functional domains of the Atm protein (UniProt.org). R221I has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
H1380Y missense loss of function - predicted ATM H1380Y is located in the c-Abl binding domain of the Atm protein (PMID: 12969974). H1380Y likely impairs the interaction of Atm with c-Abl, resulting in defective c-Abl activation (PMID: 12969974).
D126E missense unknown ATM D126E does not lie within any known functional domains of the Atm protein (UniProt.org). D126E has been identified in the scientific literature studies (PMID: 11443540, PMID: 16520463, PMID: 24793135), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
negative unknown loss of function ATM negative indicates a lack of the ATM gene, mRAN, or protein.
F582L missense unknown ATM F582L does not lie within any known functional domains of the Atm protein (UniProt.org). F582L has been identified in the scientific literature (PMID: 14695997, PMID: 16574953, PMID: 25625042), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
L546V missense no effect - predicted ATM L546V does not lie within any known functional domains of the Atm protein (UniProt.org). L546V results in Atm kinase activity similar to wild-type in culture as demonstrated by phosphorylation of ATM target proteins and thus, is predicted to have no effect on the Atm protein (PMID: 18573109).
L259I missense unknown ATM L259I does not lie within any known functional domains of the Atm protein (UniProt.org). L259I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
wild-type none no effect Wild-type ATM indicates that no mutation has been detected within the ATM gene.
A1127V missense unknown ATM A1127V does not lie within any known functional domains of the Atm protein (UniProt.org). A1127V has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
dec exp none no effect ATM dec exp indicates decreased expression of the Atm protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified.
T2666A missense loss of function - predicted ATM T2666A does not lie within any known functional domains of the Atm protein (UniProt.org). T2666A is predicted to confer a loss of function to the Atm protein, as demonstrated by an Atm functional assay (PMID: 23585524).
Y2437C missense unknown ATM Y2437C lies within the FAT domain of the Atm protein (UniProt.org). Y2437C has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
R1918T missense unknown ATM R1918T does not lie within any known functional domains of the Atm protein (UniProt.org). R1918T has been identified in sequencing studies (PMID: 28779002), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
R2598* nonsense loss of function - predicted ATM R2598* results in a premature truncation of the Atm protein at amino acid 2598 of 3056 (UniProt.org). Due to the loss of the protein kinase and FATC domains (UniProt.org), R2598* is predicted to lead to a loss of Atm protein function.
R2832C missense loss of function ATM R2832C lies within the PI3K/PI4K protein kinase domain of the Atm protein (UniProt.org). R2832C confers a loss of function to the Atm protein as demonstrated by reduced Atm protein expression and increased radiosensitivity of cultured cells (PMID: 18634022).
C353fs frameshift loss of function - predicted ATM C353fs results in a change in the amino acid sequence of the Atm protein beginning at aa 353 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), C353fs is predicted to lead to a loss of Atm function.
R2849* nonsense loss of function - predicted ATM R2849* results in a premature truncation of the Atm protein at amino acid 2849 of 3056 (UniProt.org). Due to the loss of the PI3K/PI4K protein kinase and FATC domains (UniProt.org), R2848* is predicted to lead to a loss of Atm protein function.
K1964E missense unknown ATM K1964E lies within the FAT domain of the Atm protein (UniProt.org). K1964E has been identified in sequencing studies (PMID: 26675346), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
L2877F missense unknown ATM L2877F lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). L2877F has been identified in the scientific literature (PMID: 27206246), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
P631S missense unknown ATM P631S does not lie within any known functional domains of the Atm protein (UniProt.org). P631S has not been characterized in the scientific literature and therefore, its effects on Atm protein function is unknown (PubMed, Jul 2018).
Q1128R missense unknown ATM Q1128R does not lie within any known functional domains of the Atm protein (UniProt.org). Q1128R has been identified in sequencing studies (PMID: 16014569, PMID: 27534895), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
L2561M missense unknown ATM L2561M lies within the FAT domain of the Atm protein (UniProt.org). L2561M has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
N1983S missense unknown ATM N1983S lies within the FAT domain of the Atm protein (UniProt.org). N1983S has been identified in sequencing studies (PMID: 25275298), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
C532Y missense unknown ATM C532Y does not lie within any known functional domains of the Atm protein (UniProt.org). C532Y has been identified in the scientific literature (PMID: 11756177), but has not been characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
L1439I missense unknown ATM L1439I does not lie within any known functional domains of the Atm protein (UniProt.org). L1439I has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
F858L missense unknown ATM F858L does not lie within any known functional domains of the Atm protein (UniProt.org). F858L has been identified in the scientific literature (PMID: 16832357), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018).
Molecular Profile Protein Effect Treatment Approaches
ATM R2034* loss of function - predicted PARP Inhibitor (Pan)
ATM S978C unknown
ATM G2023R unknown
ATM L942I unknown
ATM L1675F unknown
ATM D1853V unknown
ATM H2872R unknown
ATM R337C unknown
ATM Y2755C unknown
ATM G1459R unknown
ATM I1681V loss of function PARP Inhibitor (Pan)
ATM R248Q unknown
ATM E1666* loss of function - predicted PARP Inhibitor (Pan)
ATM R2598Q unknown
ATM T1880R unknown
ATM N2603S unknown
ATM S3027I unknown
ATM E390* loss of function - predicted PARP Inhibitor (Pan)
ATM S978fs loss of function - predicted PARP Inhibitor (Pan)
ATM L804fs ATM S978fs RET M918T
ATM W412* loss of function - predicted PARP Inhibitor (Pan)
ATM Q1579fs loss of function - predicted PARP Inhibitor (Pan)
ATM M2405L unknown
ATM D2725V unknown
ATM R337S loss of function PARP Inhibitor (Pan)
ATM K3043R unknown
ATM E2272* loss of function - predicted PARP Inhibitor (Pan)
ATM V2951F unknown
ATM D2870Y unknown
ATM T2902fs loss of function - predicted PARP Inhibitor (Pan)
ATM S978P unknown
ATM V630M unknown
ATM Q2762R unknown
ATM R1730* loss of function - predicted PARP Inhibitor (Pan)
ATM S978A unknown
ATM E871K unknown
ATM over exp no effect
ATM N2875T unknown
ATM F570L unknown
ATM K1410* loss of function - predicted PARP Inhibitor (Pan)
ATM T2934I unknown
ATM W57* loss of function - predicted PARP Inhibitor (Pan)
ATM P1054R no effect - predicted
ATM S99G unknown
ATM D1853N unknown
ATM L991S unknown
ATM A1742P loss of function - predicted PARP Inhibitor (Pan)
ATM R2459C unknown
ATM R805* loss of function - predicted PARP Inhibitor (Pan)
ATM E1978* loss of function - predicted PARP Inhibitor (Pan)
ATM F1683V unknown
ATM A1309T unknown
ATM S131* loss of function - predicted PARP Inhibitor (Pan)
ATM C430S unknown
ATM R337H unknown
ATM V2439A unknown
ATM L822V unknown
ATM R1466* loss of function - predicted PARP Inhibitor (Pan)
ATM T2947S loss of function - predicted PARP Inhibitor (Pan)
ATM L1408I unknown
ATM R1730Q unknown
ATM L2890V loss of function - predicted PARP Inhibitor (Pan)
ATM D2395V unknown
ATM R1150I unknown
ATM inact mut loss of function PARP Inhibitor (Pan)
ATM L2780R unknown
ATM D2721N unknown
ATM F897I unknown
ATM R3047* loss of function - predicted PARP Inhibitor (Pan)
ATM mutant unknown
ATM mut NRAS Q61R
ATM W2845C unknown
ATM D2720H unknown
ATM G2695S unknown
ATM I1849fs loss of function - predicted PARP Inhibitor (Pan)
ATM R2032K unknown
ATM V2119fs loss of function - predicted PARP Inhibitor (Pan)
ATM A2622T unknown
ATM L804fs loss of function - predicted PARP Inhibitor (Pan)
ATM T1756I unknown
ATM L2077I unknown
ATM G2083* loss of function - predicted PARP Inhibitor (Pan)
ATM F2839L unknown
ATM N1356D unknown
ATM D1963N unknown
ATM R2443P unknown
ATM D2721Y unknown
ATM P2842L unknown
ATM D351Y unknown
ATM D1682Y loss of function - predicted PARP Inhibitor (Pan)
ATM L1046R unknown
ATM E2904K unknown
ATM S2407* loss of function - predicted PARP Inhibitor (Pan)
ATM F2140V unknown
ATM L1939V unknown
ATM N2875K unknown
ATM E522* loss of function - predicted PARP Inhibitor (Pan)
ATM P178S unknown
ATM W3052C unknown
ATM S333F unknown
ATM T2743M unknown
ATM R3008C loss of function - predicted PARP Inhibitor (Pan)
ATM L2722M unknown
ATM L348_M349insYIV unknown
ATM L2995I unknown
ATM G2695A unknown
ATM N914S unknown
ATM L2427P loss of function - predicted PARP Inhibitor (Pan)
ATM L2492R unknown
ATM T1350M unknown
ATM K468fs loss of function - predicted PARP Inhibitor (Pan)
ATM L2332P unknown
ATM Q2442P unknown
ATM P2353H unknown
ATM S2812Y unknown
ATM R3008H loss of function - predicted PARP Inhibitor (Pan)
ATM S1691R unknown
ATM del loss of function PARP Inhibitor (Pan)
ATM del KRAS G12D
ATM P604S unknown
ATM E848Q unknown
ATM C730Y unknown
ATM V60F unknown
ATM A3006T unknown
ATM S719* loss of function - predicted PARP Inhibitor (Pan)
ATM G2891R unknown
ATM G2695C unknown
ATM S1403fs loss of function - predicted PARP Inhibitor (Pan)
ATM I2888T unknown
ATM D2720N unknown
ATM P2353T unknown
ATM V278fs loss of function - predicted PARP Inhibitor (Pan)
ATM G514D unknown
ATM H2038Y unknown
ATM K2756* loss of function - predicted PARP Inhibitor (Pan)
ATM L2307F unknown
ATM A1950T unknown
ATM S1455R loss of function PARP Inhibitor (Pan)
ATM R250* loss of function - predicted PARP Inhibitor (Pan)
ATM P2699S loss of function - predicted PARP Inhibitor (Pan)
ATM Y1124F unknown
ATM I2888L unknown
ATM positive unknown
ATM R23Q unknown
ATM R2691C unknown
ATM L1408F unknown
ATM V410A unknown
ATM V1941L loss of function - predicted PARP Inhibitor (Pan)
ATM A1812P unknown
ATM V2424G loss of function - predicted PARP Inhibitor (Pan)
ATM P80S unknown
ATM Y2954C unknown
ATM D2725G unknown
ATM R1466Q unknown
ATM R2993* loss of function - predicted PARP Inhibitor (Pan)
ATM L1420F unknown
ATM F168L unknown
ATM L100W unknown
ATM N1650S loss of function PARP Inhibitor (Pan)
ATM Y2398C unknown
ATM I124V unknown
ATM N2875S unknown
ATM S707P unknown
ATM R832C unknown
ATM H2872Q unknown
ATM S49C unknown
ATM R2443Q unknown
ATM Q2066L unknown
ATM A2067D loss of function PARP Inhibitor (Pan)
ATM E1072* loss of function - predicted PARP Inhibitor (Pan)
ATM P2665T unknown
ATM loss loss of function PARP Inhibitor (Pan)
ATM R221I unknown
ATM H1380Y loss of function - predicted PARP Inhibitor (Pan)
ATM D126E unknown
ATM negative loss of function
ATM F582L unknown
ATM L546V no effect - predicted
ATM L259I unknown
ATM wild-type no effect
ATM A1127V unknown
ATM dec exp no effect PARP Inhibitor (Pan)
ATM T2666A loss of function - predicted PARP Inhibitor (Pan)
ATM Y2437C unknown
ATM R1918T unknown
ATM R2598* loss of function - predicted PARP Inhibitor (Pan)
ATM R2832C loss of function PARP Inhibitor (Pan)
ATM C353fs loss of function - predicted PARP Inhibitor (Pan)
ATM R2849* loss of function - predicted PARP Inhibitor (Pan)
ATM K1964E unknown
ATM L2877F unknown
ATM P631S unknown
ATM Q1128R unknown
ATM L2561M unknown
ATM N1983S unknown
ATM C532Y unknown
ATM L1439I unknown
ATM F858L unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATM L804fs ATM S978fs RET M918T thyroid medullary carcinoma predicted - sensitive Vandetanib + Everolimus Clinical Study Actionable In a clinical case study, addition of Afinitor (everolimus) to Caprelsa (vandetanib) treatment resulted in significant tumor reduction in a medullary thyroid carcinoma patient harboring ATM L804fs*4, ATM S978fs*12, and RET M918T, that achieved prolonged stable disease on Caprelsa (vandetanib) treatment alone (PMID: 27683183). 27683183
ATM over exp stomach cancer decreased response Irinotecan Preclinical - Cell culture Actionable In a preclinical study, high ATM expression was associated with decreased response to Camptosaur (irinotecan) in gastric cancer cell lines in culture (PMID: 27638859). 27638859
ATM over exp stomach cancer sensitive Irinotecan + Veliparib Preclinical - Cell line xenograft Actionable In a preclinical study, the combination of Camptosar (irinotecan) and Veliparib (ABT-888) demonstrated synergy in gastric cancer cell lines with high ATM expression, resulting in increased apoptosis in culture, and enhanced tumor growth inhibition in cell line xenograft models (PMID: 27638859). 27638859
ATM over exp stomach cancer decreased response Veliparib Preclinical - Cell culture Actionable In a preclinical study, high ATM expression was associated with decreased response to Veliparib (ABT-888) in gastric cancer cell lines in culture (PMID: 27638859). 27638859
ATM inact mut Advanced Solid Tumor sensitive Veliparib Preclinical - Cell culture Actionable In a preclinical study, an ATM-deficient cell line demonstrated increased sensitivity to Veliparib (ABT-888) compared to an ATM-reconstituted cell line, in culture (PMID: 21300883). 21300883
ATM inact mut mantle cell lymphoma sensitive Bendamustine + Olaparib Preclinical - Cell culture Actionable In a preclinical study, Lynparza (olaparib) sensitized a mantle cell lymphoma cell line harboring an ATM inactivating mutation to Treanda (bendamustine) in cell culture, resulting in growth inhibition (PMID: 20739657). 20739657
ATM inact mut mantle cell lymphoma sensitive Olaparib Preclinical - Cell line xenograft Actionable In a preclinical study, a mantle cell lymphoma cell line with ATM inactivation demonstrated sensitivity to Lynparza (olaparib) in culture and in xenograft models (PMID: 20739657). 20739657
ATM inact mut Advanced Solid Tumor sensitive E7449 Preclinical Actionable In a preclinical study, E7449 inhibited proliferation of a ATM-deficient cell line in culture, which demonstrated increased sensitivity compared to cells without DNA repair pathway mutations (PMID: 26513298). 26513298
ATM inact mut chronic lymphocytic leukemia sensitive Olaparib Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived chronic lymphocytic leukemia cells with inactivating mutations in ATM, that had been induced to proliferate in culture, demonstrated increased sensitivity to growth inhibition by Lynparza (olaparib) compared to ATM wild-type cells (PMID: 20739657). 20739657
ATM inact mut mantle cell lymphoma sensitive Olaparib + Valproic Acid Preclinical - Cell culture Actionable In a preclinical study, the combination of Lynparza (olaparib) and valproic acid worked synergistically to inhibit growth of a mantle cell lymphoma cell line harboring an ATM inactivating mutation in culture (PMID: 20739657). 20739657
ATM inact mut lymphoblastic leukemia sensitive Olaparib Preclinical - Patient cell culture Actionable In a preclinical study, lymphoblastoid cell lines with ATM inactivation derived from ataxia-telangiectasia patients demonstrated increased sensitivity to Lynparza (olaparib) in culture, compared to ATM wild-type cell lines (PMID: 20739657). 20739657
ATM inact mut prostate cancer sensitive Olaparib Phase II Actionable In a Phase II clinical trial, 80% (4/5) of metastatic, castration-resistant prostate cancer patients harboring an ATM inactivating mutation responded to Lynparza (olaparib) (PMID: 26510020). 26510020
ATM inact mut mantle cell lymphoma sensitive Fludarabine + Olaparib Preclinical - Cell culture Actionable In a preclinical study, Lynparza (olaparib) sensitized a mantle cell lymphoma cell line harboring an ATM inactivating mutation to Fludara (fludarabine) in cell culture, resulting in decreased cell survival (PMID: 20739657). 20739657
ATM mutant prostate cancer sensitive Olaparib Phase II Actionable In a Phase II clinical trial, 80% (4/5) of metastatic castration-resistant prostate cancer patients with ATM truncation mutations demonstrated response to Lynparza (olaparib) treatment (Cancer Res August 1, 2015 75:CT322). detail...
ATM mut NRAS Q61R melanoma sensitive Binimetinib Clinical Study Actionable In a clinical study, a melanoma patient harboring an ATM mutation and NRAS Q61R demonstrated a partial response and 16 month progression free survival when treated with Binimetinib (MEK162) (PMID: 28514312). 28514312
ATM del KRAS G12D lung adenocarcinoma sensitive VX-970 Preclinical Actionable In a preclinical study, a KRAS G12D driven lung adenocarcinoma mouse model with homozygous deletion of ATM was sensitive to VX-970, demonstrating decreased tumor volume and greater overall survival compared to control treated models (PMID: 28363999). 28363999
ATM del KRAS G12D lung adenocarcinoma sensitive Olaparib Preclinical Actionable In a preclinical study, a KRAS G12D driven lung adenocarcinoma mouse model with homozygous deletion of ATM was sensitive to Lynparza (olaparib), demonstrating reduced tumor volume and greater overall survival when compared to models treated with control (PMID: 28363999). 28363999
ATM positive glioblastoma multiforme sensitive AZD1390 Preclinical - Cell line xenograft Actionable In a preclinical study, AZD1390 inhibited Atm activity, sensitized glioblastoma cell lines to radiotherapy in culture, and demonstrated efficacy in mouse models of glioblastoma (Mol Cancer Ther 2018;17(1 Suppl):Abstract nr A104). detail...
ATM positive lung cancer sensitive AZD1390 Preclinical - Cell line xenograft Actionable In a preclinical study, AZD1390 inhibited Atm activity, sensitized lung cancer cells to radiotherapy in culture, and demonstrated efficacy in cell line xenograft models (Mol Cancer Ther 2018;17(1 Suppl):Abstract nr A104). detail...
ATM loss chronic lymphocytic leukemia sensitive AZD6482 Preclinical Actionable In a preclinical study, AZD6482 induced cell death in ATM-deficient chronic lymphocytic leukemia cells in culture and inhibited tumor growth in xenograft models (PMID: 26563132). 26563132
ATM loss Advanced Solid Tumor sensitive YU238259 Preclinical Actionable In a preclinical study, YU238259 demonstrated increased cytotoxicity in ATM-deficient transformed human cell lines in culture (PMID: 26116172). 26116172
ATM loss non-small cell lung carcinoma sensitive AZD6738 + Cisplatin Preclinical Actionable In a preclinical study, AZD6738 and Platinol (cisplatin) synergistically induced cell death in ATM-deficient non-small cell lung carcinoma cell lines in culture, and caused rapid tumor regression in xenograft models (PMID: 26517239). 26517239
ATM loss chronic lymphocytic leukemia sensitive AZD6738 + Ibrutinib Preclinical Actionable In a preclinical study, AZD6738 sensitized ATM-deficient chronic lymphocytic leukemia cells to Imbruvica (Ibrutinib) treatment in culture (PMID: 26563132). 26563132
ATM loss head and neck cancer predicted - sensitive AZD6738 + Olaparib Preclinical - Cell culture Actionable In a preclinical study, the combination of AZD6738 and Lynparza (olaparib) resulted in a synergistic effect, demonstrating cell death in head and neck cancer cells harboring ATM loss in culture (Mol Cancer Ther 2015;14(12 Suppl 2):Abstract nr C60). detail...
ATM loss colorectal cancer sensitive VX-970 Phase I Actionable In a Phase I trial, VX-970 treatment resulted in complete response for more than 19 months in a colorectal cancer patient harboring ATM loss (J Clin Oncol 34, 2016 (suppl; abstr 2504)). detail...
ATM negative stomach cancer no benefit Olaparib + Paclitaxel Phase III Actionable In a Phase III trial (GOLD), addition of Lynparza (olaparib) to Taxol (paclitaxel) did not significantly improve overall survival (12.0 vs 10.0 months, HR=0.73, p=0.25) compared to Taxol (paclitaxel) alone in Asian patients with ATM-negative gastric cancer (PMID: 29103871; NCT01924533). 29103871
ATM dec exp breast cancer sensitive Talazoparib Preclinical - Cell culture Actionable In a preclinical study, knockdown of ATM expression sensitized breast cancer cells to treatment with Talzenna (talazoparib) in culture (PMID: 23881923). 23881923
ATM dec exp stomach cancer sensitive Veliparib Preclinical - Cell line xenograft Actionable In a preclinical study, knockdown of ATM in a gastric cancer cell line resulted in increased sensitivity to Veliparib (ABT-888) in culture and in xenograft models (PMID: 27638859). 27638859
ATM dec exp stomach cancer predicted - sensitive Olaparib + Paclitaxel Phase II Actionable In a Phase II trial, addition of Lynparza (olaparib) to Taxol (paclitaxel) did not significantly improve progression free survival (5.29 vs 3.68 months) compared to Taxol alone, but did significantly prolong overall survival (HR = 0.35) in metastatic gastric cancer patients with decreased Atm expression (PMID: 26282658; NCT01063517). 26282658