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Gene Symbol ATM
Synonyms AT1 | ATA | ATC | ATD | ATDC | ATE | TEL1 | TELO1
Gene Description ATM, ATM serine/threonine 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 germline mutations are associated with ataxia telangiectasia (PMID: 27283171) and ATM somatic mutations are commonly observed in endometrial, colon, pancreatic, breast cancers (PMID: 27283171, PMID: 27413114) and urothelial cancer (PMID: 29682192).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
472 11 11q22.3 NM_000051 Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A2602fs frameshift loss of function - predicted ATM A2602fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2602 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). A2602fs has not been characterized however, due to the effects of other truncation mutations downstream of A2602 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
A302fs frameshift loss of function ATM A302fs results in a change in the amino acid sequence of the Atm protein beginning at aa 302 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). A302fs results in a loss of Atm protein expression and failure to induce expression of TP53 target genes upon DNA damage in patient-derived cells in culture (PMID: 23585524).
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). C353fs has not been characterized, however, due to the effects of other truncation mutations downstream of C353 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
E518fs frameshift loss of function - predicted ATM E518fs results in a change in the amino acid sequence of the Atm protein beginning at aa 518 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). E518fs has not been characterized, however, due to the effects of other truncation mutations downstream of E518 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
I10fs frameshift loss of function - predicted ATM I10fs results in a change in the amino acid sequence of the Atm protein beginning at aa 10 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). I10fs has not been characterized, however, due to the effects of other truncation mutations downstream of I10 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
I1441fs frameshift loss of function - predicted ATM I1441fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1441 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). I1441fs has not been characterized, however, due to the effects of other truncation mutations downstream of I1441 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
I1453fs frameshift loss of function - predicted ATM I1453fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1453 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). I1453fs has not been characterized, however, due to the effects of other truncation mutations downstream of I1453 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
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). I1849fs has not been characterized, however, due to the effects of other truncation mutations downstream of I1849 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
I2629fs frameshift loss of function - predicted ATM I2629fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2629 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). I2629fs has not been characterized, however, due to the effects of other truncation mutations downstream of I2629 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
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.
K2811fs frameshift loss of function - predicted ATM K2811fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2811 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). K2811fs has not been characterized, however, due to the effects of other truncation mutations downstream of K2811 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
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). K468fs has not been characterized, however, due to the effects of other truncation mutations downstream of K468 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
L1239fs frameshift loss of function - predicted ATM L1239fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1239 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). L1239fs has not been characterized, however, due to the effects of other truncation mutations downstream of L1239 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
L15fs frameshift loss of function - predicted ATM L15fs results in a change in the amino acid sequence of the Atm protein beginning at aa 15 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), L15fs is predicted to lead to a loss of Atm protein function.
L2572fs frameshift loss of function - predicted ATM L2572fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2572 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). L2572fs has not been characterized, however, due to the effects of other truncation mutations downstream of L2572 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
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). L804fs has not been characterized, however, due to the effects of other truncation mutations downstream of L804 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
M2520fs frameshift loss of function - predicted ATM M2520fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2520 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). M2520fs has not been characterized, however, due to the effects of other truncation mutations downstream of M2520 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
mutant unknown unknown ATM mutant indicates an unspecified mutation in the ATM gene.
P1069fs frameshift loss of function - predicted ATM P1069fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1069 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). P1069fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1069 (PMID: 16603769), 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). Q1579fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q1579 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Q2522fs frameshift loss of function - predicted ATM Q2522fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2522 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). Q2522fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q2522 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
R3008X missense unknown ATM R3008X indicates any ATM missense mutation that results in replacement of the arginine (R) at amino acid 3008 by a different amino acid.
R337X missense unknown ATM R337X indicates any ATM missense mutation that results in replacement of the arginine (R) at amino acid 337 by a different amino acid.
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). S1403fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1403 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
S1993fs frameshift loss of function - predicted ATM S1993fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1993 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). S1993fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1993 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
S2017fs frameshift loss of function - predicted ATM S2017fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2017 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). S2017fs has not been characterized, however, due to the effects of other truncation mutations downstream of S2017 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
S214fs frameshift loss of function - predicted ATM S214fs results in a change in the amino acid sequence of the Atm protein beginning at aa 214 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). S214fs has not been characterized, however, due to the effects of other truncation mutations downstream of S214 (PMID: 16603769), 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). S978fs has not been characterized, however, due to the effects of other truncation mutations downstream of S978 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
T2333fs frameshift loss of function - predicted ATM T2333fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2333 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). T2333fs has not been characterized, however, due to the effects of other truncation mutations downstream of T2333 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
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). T2902fs has not been characterized, however, due to the effects of other truncation mutations downstream of T2902 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
V1268fs frameshift loss of function - predicted ATM V1268fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1268 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). V1268fs has not been characterized, however, due to the effects of other truncation mutations downstream of V1268 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
V1538fs frameshift loss of function - predicted ATM V1538fs results in a change in the amino acid sequence of the Atm protein beginning at aa 1538 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). V1538fs has not been characterized, however, due to the effects of other truncation mutations downstream of V1538 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
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). V2119fs has not been characterized, however, due to the effects of other truncation mutations downstream of V2119 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
V2288fs frameshift loss of function - predicted ATM V2288fs results in a change in the amino acid sequence of the Atm protein beginning at aa 2288 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). V2288fs has not been characterized, however, due to the effects of other truncation mutations downstream of V2288 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
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). V278fs has not been characterized, however, due to the effects of other truncation mutations downstream of V278 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.