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Gene Symbol BARD1
Synonyms
Gene Description BARD1, BRCA1 associated RING domain 1, forms a heterodimer with Brca1, which functions as an E3 ubiquitin ligase and mediator of DNA repair through homology-directed repair (HDR) (PMID: 8944023, PMID: 30925164) and centrosome regulation (PMID: 29858377). Germline mutations in BARD1 are associated with increased susceptibility to breast and ovarian cancers (PMID: 21344236), somatic mutations are highest in colon and endometrial cancers (PMID: 27283171) and BARD1 has also been implicated in neuroblastoma (PMID: 32047556).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
580 2 2q35 NM_000465 Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A168T missense unknown BARD1 A168T lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). A168T has been identified in sequencing studies (PMID: 29681454), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
A198V missense unknown BARD1 A198V lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). A198V has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
A40V missense unknown BARD1 A40V lies within the BRCA1-interacting region of the Bard1 protein (UniProt.org). A40V results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
A435V missense no effect - predicted BARD1 A435V lies within ANK repeat 1 of the Bard1 protein (UniProt.org). A435V demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
A460T missense loss of function BARD1 A460T lies within ANK repeat 2 of the Bard1 protein (UniProt.org). A460T results in decreased homology-directed DNA repair activity, leads to increased sensitivity to DNA damaging agents in cell culture (PMID: 30925164).
A518V missense unknown BARD1 A518V lies within ANK repeat 3 of the Bard1 protein (UniProt.org). A518V results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
A638T missense unknown BARD1 A638T lies within BRCT domain 1 of the Bard1 protein (UniProt.org). A638T has been identified in sequencing studies (PMID: 33933153), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Nov 2023).
A721T missense unknown BARD1 A721T lies within BRCT domain 2 of the Bard1 protein (UniProt.org). A721T results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
A724T missense unknown BARD1 A724T lies within BRCT domain 2 of the Bard1 protein (UniProt.org). A724T has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
A724V missense unknown BARD1 A724V lies within BRCT domain 2 of the Bard1 protein (UniProt.org). A724V results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
amp none no effect BARD1 amplification indicates an increased number of copies of the BARD1 gene. However, the mechanism causing the increase is unspecified.
C469R missense unknown BARD1 C469R lies within ANK repeat 2 of the Bard1 protein (UniProt.org). C469R has been identified in the scientific literature (PMID: 33773808), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
C53W missense loss of function BARD1 C53W lies within the RING-type zinc finger domain and BRCA1-interacting region of the Bard1 protein (UniProt.org). C53W confers a loss of function to the Bard1 protein as demonstrated by loss of nucleosome binding and ubiquitination of histone H2A in in vitro assays (PMID: 29367421), and reduced transcriptional repression of the estrogen metabolism genes Cyp1a1 and Cyp3a4 (PMID: 29367421) and decreased homology-directed DNA repair activity in cultured cells (PMID: 30925164).
C557S missense unknown BARD1 C557S lies within the flexible linker region of the Bard1 protein (UniProt.org). C557S demonstrates homology-directed DNA repair activity similar to wild-type Bard1 (PMID: 17848578), binds to and stabilizes Nfkb1 p50 similarly to wild-type (PMID: 33024116), however, also results in a loss of growth inhibition and apoptosis in cell culture (PMID: 16061562), and therefore, its effect on Bard1 protein function is unknown.
C62S missense no effect - predicted BARD1 C62S lies within the RING-type zinc finger domain and BRCA1-interacting region of the Bard1 protein (UniProt.org). C62S demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in cell culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
C645R missense loss of function BARD1 C645R lies within BRCT domain 1 of the Bard1 protein (UniProt.org). C645R confers a loss of function on the Bard1 protein as indicated by decreased Tp53 protein stability, loss of growth inhibition and apoptosis in cell culture (PMID: 16061562), decreased interaction with Obg like ATPase 1, Ola1 (PMID: 29858377), and pre-rRNA in an in vitro analysis, and inhibits localization to double strand breaks in culture (PMID: 37789001).
C71Y missense loss of function BARD1 C71Y lies within the RING-type zinc finger domain and BRCA1-interacting region of the Bard1 protein (UniProt.org). C71Y confers a loss of function to the Bard1 protein as demonstrated by loss of nucleosome binding and ubiquitination of histone H2A in in vitro assays (PMID: 29367421), and reduced transcriptional repression of the estrogen metabolism genes Cyp1a1 and Cyp3a4 (PMID: 29367421) and decreased homology-directed DNA repair activity in cultured cells (PMID: 30925164).
C74Y missense unknown BARD1 C74Y lies within the RING-type zinc finger domain and BRCA1-interacting region of the Bard1 protein (UniProt.org). C74Y has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
C78S missense no effect - predicted BARD1 C78S lies within the RING-type zinc finger domain and BRCA1-interacting region of the Bard1 protein (UniProt.org). C78S demonstrates nucleosome binding and ubiquitination of histone H2A similar to wild-type Bard1 in in vitro assays, and results in transcriptional repression of the estrogen metabolism genes Cyp1a1 and Cyp3a4 similar to wild-type Bard1 in cultured cells (PMID: 29367421), and therefore, is predicted to have no effect on Bard1 protein function.
C83R missense loss of function BARD1 C83R lies within the RING-type zinc finger domain and BRCA1-interacting region of the Bard1 protein (UniProt.org). C83R confers a loss of function to the Bard1 protein as demonstrated by impaired nucleosome binding and loss of histone H2A ubiquitination in in vitro assays and reduced transcriptional repression of the estrogen metabolism genes Cyp1a1 and Cyp3a4 in cultured cells (PMID: 29367421).
D135N missense loss of function BARD1 D135N lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). D135N results in Brca1 interaction similar to wild-type Bard1 but decreased Rad51 interaction and increased sensitivity to DNA damage upon irradiation in culture and in mouse models (PMID: 33933153).
D190N missense no effect - predicted BARD1 D190N lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). D190N demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
D190Y missense no effect - predicted BARD1 D190Y lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). D190Y demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
D230E missense no effect - predicted BARD1 D230E lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). D230E demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
D612fs frameshift loss of function - predicted BARD1 D612fs results in a change in the amino acid sequence of the Bard1 protein beginning at aa 612 of 777, likely resulting in premature truncation of the functional protein (UniProt.org). D612fs demonstrates similar Brca1 interaction and Rad51 foci formation to wild-type Bard1, however, results in impaired apoptosis following induction of double-strand DNA breaks in cultured cells (PMID: 31371347), and therefore, is predicted to lead to a loss of Bard1 protein function.
D612V missense no effect - predicted BARD1 D612V lies within BRCT domain 1 of the Bard1 protein (UniProt.org). D612V demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
del deletion loss of function BARD1 del indicates the deletion of the BARD1 gene.
E223G missense no effect - predicted BARD1 E223G lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). E223G demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
E27Q missense unknown BARD1 E27Q lies within the BRCA1-interacting region of the Bard1 protein (UniProt.org). E27Q results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
E287* nonsense loss of function - predicted BARD1 E287* results in a premature truncation of the Bard1 protein at amino acid 287 of 777 (UniProt.org). E287* has not been biochemically characterized however, due to the effects of other truncation mutations downstream of E287 (PMID: 31371347, PMID: 30925164), is predicted to lead to a loss of Bard1 protein function.
E355K missense unknown BARD1 E355K does not lie within any known functional domains of the Bard1 protein (UniProt.org). E355K has not been characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
E361D missense no effect - predicted BARD1 E361D does not lie within any known functional domains of the Bard1 protein (UniProt.org). E361D demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
E652fs frameshift loss of function - predicted BARD1 E652fs results in a change in the amino acid sequence of the Bard1 protein beginning at aa 652 of 777, likely resulting in premature truncation of the functional protein (UniProt.org). E652fs has not been biochemically characterized however, due to the effects of other truncation mutations downstream of E652 (PMID: 30925164, PMID: 31371347), is predicted to lead to a loss of Bard1 protein function.
E67K missense no effect - predicted BARD1 E67K lies within the RING-type zinc finger domain and BRCA1-interacting region of the Bard1 protein (UniProt.org). E67K demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
F677L missense unknown BARD1 F677L lies within BRCT domain 2 of the Bard1 protein (UniProt.org). F677L results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
G203* nonsense loss of function - predicted BARD1 G203* results in a premature truncation of the Bard1 protein at amino acid 203 of 777 (UniProt.org). G203* results in loss of binding to Nfkb1 p50 in cell culture (PMID: 33024116), and due to the effects of other truncation mutations downstream of G203 (PMID: 31371347, PMID: 30925164), is predicted to lead to a loss of Bard1 protein function.
G32V missense unknown BARD1 G32V lies within the BRCA1-interacting region of the Bard1 protein (UniProt.org). G32V results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
G451fs frameshift loss of function - predicted BARD1 G451fs results in a change in the amino acid sequence of the Bard1 protein beginning at aa 451 of 777, likely resulting in premature truncation of the functional protein (UniProt.org). G451fs has been associated with increased loss of heterozygosity (LOH) in patient samples, and is predicted to confer a loss of function to the Bard1 protein as demonstrated by decreased homology-directed DNA repair activity in cell culture (PMID: 30925164).
G574D missense unknown BARD1 G574D lies within BRCT domain 1 of the Bard1 protein (UniProt.org). G574D results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
G576V missense unknown BARD1 G576V lies within BRCT domain 1 of the Bard1 protein (UniProt.org). G576V has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
G623E missense loss of function BARD1 G623E lies within BRCT domain 1 of the Bard1 protein (UniProt.org). G623E confers a loss of function to the Bard1 protein as demonstrated by loss of binding to Brca1 (PMID: 26350354) and decreased homology-directed DNA repair activity in cell culture (PMID: 30925164).
G656R missense unknown BARD1 G656R does not lie within any known functional domains of the Bard1 protein (UniProt.org). G656R results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
G681fs frameshift loss of function - predicted BARD1 G681fs results in a change in the amino acid sequence of the Bard1 protein beginning at aa 681 of 777, likely resulting in premature truncation of the functional protein (UniProt.org). G681fs has not been biochemically characterized however, due to the effects of other truncation mutations downstream of G681 (PMID: 30925164, PMID: 31371347), is predicted to lead to a loss of Bard1 protein function.
G698D missense loss of function - predicted BARD1 G698D lies within BRCT domain 2 of the Bard1 protein (UniProt.org). G698D is predicted to confer a loss of function to the Bard1 protein, as demonstrated by decreased homology-directed DNA repair activity in cell culture (PMID: 30925164).
G700Afs*14 frameshift loss of function - predicted BARD1 G700Afs*14 indicates a shift in the reading frame starting at amino acid 700 and terminating 14 residues downstream causing a premature truncation of the 777 amino acid Bard1 protein (UniProt.org). G700Afs*14 demonstrates similar Brca1 interaction and Rad51 foci formation as wild-type Bard1, however, results in impaired apoptosis following induction of double-strand DNA breaks in cultured cells (PMID: 31371347), and therefore, is predicted to lead to a loss of Bard1 protein function.
G753D missense loss of function BARD1 G753D lies within BRCT domain 2 of the Bard1 protein (UniProt.org). G753D results in decreased homology-directed DNA repair activity compared to wild-type Bard1, leading to increased sensitivity to DNA damaging agents in cell culture (PMID: 30925164).
H116Y missense unknown BARD1 H116Y lies within the BRCA1-interacting region of the Bard1 protein (UniProt.org). H116Y results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
H483R missense unknown BARD1 H483R lies within ANK repeat 2 of the Bard1 protein (UniProt.org). H483R results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
H506R missense unknown BARD1 H506R lies within ANK repeat 3 of the Bard1 protein (UniProt.org). H506R results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
H556D missense unknown BARD1 H556D lies within the flexible linker region of the Bard1 protein (UniProt.org). H556D results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
H606D missense unknown BARD1 H606D lies within BRCT domain 1 of the Bard1 protein (UniProt.org). H606D results in increased flexibility of the BRCT domain of Bard1 in computational structural simulation (PMID: 36530327), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
H686A missense unknown BARD1 H686A lies within BRCT domain 2 of the Bard1 protein (UniProt.org). H686A results in loss of binding to Nfkb1 p50 in cell culture (PMID: 33024116), but has not been fully biochemically characterized and therefore, its effect on Bard1 protein function is unknown.
I214M missense unknown BARD1 I214M lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). I214M has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Jan 2024).
I249V missense no effect - predicted BARD1 I249V lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). I249V demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
I258T missense no effect - predicted BARD1 I258T lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). I258T demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
I434F missense unknown BARD1 I434F lies within ANK repeat 1 of the Bard1 protein (UniProt.org). I434F results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
I441M missense unknown BARD1 I441M lies within ANK repeat 1 of the Bard1 protein (UniProt.org). I441M has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
I692T missense unknown BARD1 I692T lies within BRCT domain 2 of the Bard1 protein (UniProt.org). I692T results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
I69M missense no effect - predicted BARD1 I69M lies within the RING-type zinc finger domain and BRCA1-interacting region of the Bard1 protein (UniProt.org). I69M demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
I738V missense no effect BARD1 I738V lies within BRCT domain 2 of the Bard1 protein (UniProt.org). I738V demonstrates effects on cell growth and apoptosis similar to wild-type Bard1 protein in culture (PMID: 16061562).
inact mut unknown loss of function BARD1 inact mut indicates that this variant results in a loss of function of the Bard1 protein. However, the specific amino acid change has not been identified.
K140N missense unknown BARD1 K140N lies within the Rad51-interacting domain of the Bard1 protein (PMID: 28976962). K140N results in decreased binding to Rad51 and failure to carry out Rad51-mediated DNA strand invasion (PMID: 28976962), but displays homology-directed DNA repair activity similar to wild-type Bard1 in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
K160R missense unknown BARD1 K160R lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). K160R has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
K209Efs*5 frameshift loss of function - predicted BARD1 K209Efs*5 indicates a shift in the reading frame starting at amino acid 209 and terminating 5 residues downstream causing a premature truncation of the 777 amino acid Bard1 protein (UniProt.org). K209Efs*5 has not been biochemically characterized however, due to the effects of other truncation mutations downstream of K209 (PMID: 31371347, PMID: 30925164), is predicted to lead to a loss of Bard1 protein function.
K312N missense loss of function BARD1 K312N does not lie within any known functional domains of the Bard1 protein (UniProt.org). K312N confers a loss of function on the Bard1 protein as indicated by decreased Tp53 protein stability, loss of growth inhibition, and apoptosis in cell culture (PMID: 16061562).
K321Nfs*21 frameshift loss of function - predicted BARD1 K321Nfs*21 indicates a shift in the reading frame starting at amino acid 321 and terminating 21 residues downstream causing a premature truncation of the 777 amino acid Bard1 protein (UniProt.org). K321Nfs*21 has not been biochemically characterized however, due to the effects of other truncation mutations downstream of K321 (PMID: 31371347, PMID: 30925164), is predicted to lead to a loss of Bard1 protein function.
K540N missense unknown BARD1 K540N lies within degenerate ANK repeat 4 of the Bard1 protein (UniProt.org). K540N results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
K757M missense unknown BARD1 K757M lies within BRCT domain 2 of the Bard1 protein (UniProt.org). K757M has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
L239Q missense no effect - predicted BARD1 L239Q lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). L239Q has been associated with increased loss of heterozygosity (LOH) in patient samples, but demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
L239R missense unknown BARD1 L239R lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). L239R has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
L359_P365del deletion unknown BARD1 L359_P365del results in the deletion of seven amino acids of the Bard1 protein from amino acids 359 to 365 (UniProt.org). L359_P365del has been identified in sequencing studies (PMID: 28717660, PMID: 27748766, PMID: 32756499), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
L447C missense no effect - predicted BARD1 L447C lies within ANK repeat 1 of the Bard1 protein (UniProt.org). L447C demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
L447F missense unknown BARD1 L447F lies within ANK repeat 1 of the Bard1 protein (UniProt.org). L447F has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
L44R missense loss of function BARD1 L44R lies within the BRCA1-interacting region of the Bard1 protein (UniProt.org). L44R confers a loss of function on the Bard1 protein, as demonstrated by loss of homology-directed DNA repair activity and loss of Brca1 binding in cell culture (PMID: 11773071, PMID: 30925164).
L465F missense loss of function - predicted BARD1 L465F lies within ANK repeat 2 of the Bard1 protein (UniProt.org). L465F is predicted to confer a loss of function to the Bard1 protein, as demonstrated by decreased homology-directed DNA repair activity in cell culture (PMID: 30925164).
L480S missense loss of function - predicted BARD1 L480S lies within ANK repeat 2 of the Bard1 protein (UniProt.org). L480S is predicted to confer a loss of function to the Bard1 protein, as demonstrated by decreased homology-directed DNA repair activity in cell culture (PMID: 30925164).
L585I missense unknown BARD1 L585I lies within BRCT domain 1 of the Bard1 protein (UniProt.org). L585I has been identified in sequencing studies (PMID: 30205045), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Feb 2024).
L625I missense unknown BARD1 L625I lies within BRCT domain 1 of the Bard1 protein (UniProt.org). L625I results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
loss unknown loss of function BARD1 loss indicates loss of the BARD1 gene, mRNA, and protein.
M104I missense no effect - predicted BARD1 M104I lies within the BRCA1-interacting region of the Bard1 protein (UniProt.org). M104I demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
M621I missense unknown BARD1 M621I lies within BRCT domain 1 of the Bard1 protein (UniProt.org). M621I results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
mutant unknown unknown BARD1 mutant indicates an unspecified mutation in the BARD1 gene.
N118S missense no effect - predicted BARD1 N118S lies within the BRCA1-interacting region of the Bard1 protein (UniProt.org). N118S demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
N295S missense loss of function BARD1 N295S does not lie within any known functional domains of the Bard1 protein (UniProt.org). N295S confers a loss of function on the Bard1 protein as indicated by decreased Tp53 protein stability, loss of growth inhibition and apoptosis in cell culture (PMID: 16061562).
N326D missense no effect - predicted BARD1 N326D does not lie within any known functional domains of the Bard1 protein (UniProt.org). N326D demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
N326S missense no effect - predicted BARD1 N326S does not lie within any known functional domains of the Bard1 protein (UniProt.org). N326S demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
N356I missense unknown BARD1 N356I does not lie within any known functional domains of the Bard1 protein (UniProt.org). N356I retains the ability to bind Brca1 (PMID: 26350354), but results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
N450H missense no effect - predicted BARD1 N450H lies within ANK repeat 1 of the Bard1 protein (UniProt.org). N450H has been associated with increased loss of heterozygosity (LOH) in patient samples, but results in homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
N488S missense unknown BARD1 N488S lies within ANK repeat 2 of the Bard1 protein (UniProt.org). N488S results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
N626S missense unknown BARD1 N626S lies within BRCT domain 1 of the Bard1 protein (UniProt.org). N626S results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
N744D missense unknown BARD1 N744D lies within BRCT domain 2 of the Bard1 protein (UniProt.org). N744D has not been characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
N98S missense no effect - predicted BARD1 N98S lies within the BRCA1-interacting region of the Bard1 protein (UniProt.org). N98S demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
P24fs frameshift loss of function - predicted BARD1 P24fs results in a change in the amino acid sequence of the Bard1 protein beginning at aa 24 of 777, likely resulting in premature truncation of the functional protein (UniProt.org). P24fs has not been biochemically characterized however, due to the effects of other truncation mutations downstream of P24 (PMID: 31371347, PMID: 30925164), is predicted to lead to a loss of Bard1 protein function.
P24S missense no effect BARD1 P24S does not lie within any known functional domains of the Bard1 protein (UniProt.org). P24S demonstrates similar cell growth and apoptosis (PMID: 16061562), genome stability, ubiquitin-conjugation, Brca1 and Rad51 foci formation, and DNA damage response as wild-type Bard1 in cultured cells, and is not transforming in Tp53-null cells in a mouse model (PMID: 33623049).
P24_A25insGTSLVPP insertion unknown BARD1 P24_A25insGTSLVPP results in the insertion of seven amino acids in the Bard1 protein between amino acids 24 and 25 (UniProt.org). P24_A25insGTSLVPP (referred to as A23delinsAPGTSLVP) has been identified in sequencing studies (PMID: 33933153), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Nov 2023).
P281S missense unknown BARD1 P281S does not lie within any known functional domains of the Bard1 protein (UniProt.org). P281S has been identified in sequencing studies (PMID: 29596542, PMID: 27978560), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
P411H missense unknown BARD1 P411H does not lie within any known functional domains of the Bard1 protein (UniProt.org). P411H has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
P530L missense loss of function - predicted BARD1 P530L lies within ANK repeat 4 of the Bard1 protein (UniProt.org). P530L is predicted to confer a loss of function to the Bard1 protein, as demonstrated by decreased homology-directed DNA repair activity in cell culture (PMID: 30925164).
P707S missense loss of function BARD1 P707S lies within BRCT domain 2 of the Bard1 protein (UniProt.org). P707S results in decreased homology-directed DNA repair activity compared to wild-type Bard1, leading to increased sensitivity to DNA damaging agents in cell culture (PMID: 30925164).
P84S missense unknown BARD1 P84S lies within the RING-type zinc finger domain and BRCA1-interacting region of the Bard1 protein (UniProt.org). P84S results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
Q164* nonsense loss of function - predicted BARD1 Q164* results in a premature truncation of the Bard1 protein at amino acid 164 of 777 (UniProt.org). Q164* has not been biochemically characterized however, due to the effects of other truncation mutations downstream of Q164 (PMID: 31371347, PMID: 30925164), is predicted to lead to a loss of Bard1 protein function.
Q237E missense unknown BARD1 Q237E lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). Q237E has been identified in sequencing studies (PMID: 25186949, PMID: 25980754), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
Q493E missense unknown BARD1 Q493E lies within ANK repeat 3 of the Bard1 protein (UniProt.org). Q493E has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Jan 2024).
Q564* nonsense loss of function - predicted BARD1 Q564* results in a premature truncation of the Bard1 protein at amino acid 564 of 777 (UniProt.org). Q564* is predicted to confer a loss of function to the Bard1 protein, as demonstrated by decreased homology-directed DNA repair activity in cell culture (PMID: 30925164).
Q564H missense loss of function BARD1 Q564H lies within BRCT domain 1 of the Bard1 protein (UniProt.org). Q564H results in decreased Tp53 protein stability, loss of growth inhibition and apoptosis in cell culture (PMID: 16061562) and a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164).
Q730* nonsense loss of function - predicted BARD1 Q730* results in a premature truncation of the Bard1 protein at amino acid 730 of 777 (UniProt.org). Q730* has not been biochemically characterized however, due to the effects of other truncation mutations downstream of Q730 (PMID: 30925164), is predicted to lead to a loss of Bard1 protein function.
R112Q missense unknown BARD1 R112Q lies within the BRCA1-interacting region of the Bard1 protein (UniProt.org). R112Q results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
R150Q missense unknown BARD1 R150Q lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). R150Q has been identified in the scientific literature (PMID: 10807537), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
R194K missense no effect - predicted BARD1 R194K lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). R194K demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
R21C missense unknown BARD1 R21C does not lie within any known functional domains of the Bard1 protein (UniProt.org). R21C has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Apr 2024).
R21L missense unknown BARD1 R21L does not lie within any known functional domains of the Bard1 protein (UniProt.org). R21L has not been characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Apr 2024).
R322H missense no effect - predicted BARD1 R322H does not lie within any known functional domains of the Bard1 protein (UniProt.org). R322H demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
R378S missense no effect - predicted BARD1 R378S does not lie within any known functional domains of the Bard1 protein (UniProt.org). R378S altered subcellular localization but similar genome stability, ubiquitin-conjugation, Brca1 and Rad51 foci formation, and DNA damage response as wild-type Bard1 in cultured cells, and is not transforming in Tp53-null cells in a mouse model (PMID: 33623049), and therefore, is predicted to have no effect on Bard1 protein function.
R406* nonsense loss of function - predicted BARD1 R406* results in a premature truncation of the Bard1 protein at amino acid 406 of 777 (UniProt.org). R406* has not been biochemically characterized however, due to the effects of other truncation mutations downstream of R406 (PMID: 31371347, PMID: 30925164), is predicted to lead to a loss of Bard1 protein function.
R406G missense unknown BARD1 R406G does not lie within any known functional domains of the Bard1 protein (UniProt.org). R406G results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
R406Q missense unknown BARD1 R406Q does not lie within any known functional domains of the Bard1 protein (UniProt.org). R406Q results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
R529Q missense unknown BARD1 R529Q lies within ANK repeat 4 of the Bard1 protein (UniProt.org). R529Q has been identified in sequencing studies (PMID: 33933153), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Nov 2023).
R565C missense loss of function - predicted BARD1 R565C lies within BRCT domain 1 of the Bard1 protein (UniProt.org). R565C is predicted to confer a loss of function to the Bard1 protein, as demonstrated by decreased homology-directed DNA repair activity in cell culture (PMID: 30925164).
R565H missense unknown BARD1 R565H lies within BRCT domain 1 of the Bard1 protein (UniProt.org). R565H results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
R641Q missense unknown BARD1 R641Q lies within BRCT domain 1 of the Bard1 protein (UniProt.org). R641Q results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
R642G missense unknown BARD1 R642G lies within BRCT domain 1 of the Bard1 protein (UniProt.org). R642G results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
R658C missense unknown BARD1 R658C does not lie within any known functional domains of the Bard1 protein (UniProt.org). R658C demonstrates effects on Tp53 stability, cell growth and apoptosis similar to wild type Bard1 protein in culture (PMID: 16061562), but does not bind to or stabilize Nfkb1 p50 in cell culture (PMID: 33024116), and results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
R658S missense unknown BARD1 R658S does not lie within any known functional domains of the Bard protein (UniProt.org). R658S has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
R664T missense unknown BARD1 R664T does not lie within any known functional domains of the Bard1 protein (UniProt.org). R664T results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
R731C missense unknown BARD1 R731C lies within BRCT domain 2 of the Bard1 protein (UniProt.org). R731C results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
R731G missense unknown BARD1 R731G lies within BRCT domain 2 of the Bard1 protein (UniProt.org). R731G results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
R731H missense unknown BARD1 R731H lies within BRCT domain 2 of the Bard1 protein (UniProt.org). R731H results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
S103N missense no effect - predicted BARD1 S103N lies within the BRCA1-interacting region of the Bard1 protein (UniProt.org). S103N demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
S109R missense no effect - predicted BARD1 S109R lies within the BRCA1-interacting region of the Bard1 protein (UniProt.org). S109R demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
S142* nonsense loss of function - predicted BARD1 S142* results in a premature truncation of the Bard1 protein at amino acid 142 of 777 (UniProt.org). S142* has not been biochemically characterized however, due to the effects of other truncation mutations downstream of S142 (PMID: 31371347, PMID: 30925164), is predicted to lead to a loss of Bard1 protein function.
S151N missense no effect - predicted BARD1 S151N lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). S151N demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
S174I missense unknown BARD1 S174I lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). S174I has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
S186N missense unknown BARD1 S186N lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). S186N has been identified in sequencing studies (PMID: 29676392), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
S241C missense no effect - predicted BARD1 S241C lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). S241C demonstrates homology-directed DNA repair activity (PMID: 30925164, PMID: 33623049), subcellular localization, genome stability and ubiquitin ligase activity similar to wild-type Bard1 in culture (PMID: 33623049), and therefore, is predicted to have no effect on Bard1 protein function.
S279P missense unknown BARD1 S279P does not lie within any known functional domains of the Bard1 protein (UniProt.org). S279P results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
S339N missense unknown BARD1 S339N does not lie within any known functional domains of the Bard1 protein (UniProt.org). S339N results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
S339T missense unknown BARD1 S339T does not lie within any known functional domains of the Bard1 protein (UniProt.org). S339T has been associated with increased loss of heterozygosity (LOH) in patient samples and results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
S342N missense unknown BARD1 S342N does not lie within any known functional domains of the Bard1 protein (UniProt.org). S342N results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
S389C missense unknown BARD1 S389C does not lie within any known functional domains of the Bard1 protein (UniProt.org). S398C results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
S389R missense unknown BARD1 S389R does not lie within any known functional domains of the Bard1 protein (UniProt.org). S389R has been identified in in the scientific literature (PMID: 10519411), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Jan 2024).
S551* nonsense loss of function - predicted BARD1 S551* results in a premature truncation of the Bard1 protein at amino acid 551 of 777 (UniProt.org). S551* is predicted to confer a loss of function to the Bard1 protein, as demonstrated by decreased homology-directed DNA repair activity in cell culture (PMID: 30925164).
S558P missense unknown BARD1 S558P lies within the flexible linker region of the Bard1 protein (UniProt.org). S558P results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
S575A missense unknown BARD1 S575A lies within BRCT domain 1 of the Bard1 protein (UniProt.org). S575A results in loss of binding to Nfkb1 p50 in cell culture (PMID: 33024116), but has not been fully biochemically characterized and therefore, its effect on Bard1 protein function is unknown.
S575N missense unknown BARD1 S575N lies within BRCT domain 1 of the Bard1 protein (UniProt.org). S575N results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
S602I missense unknown BARD1 S602I lies within BRCT domain 1 of the Bard1 protein (UniProt.org). S602I has been identified in sequencing studies (PMID: 18948947), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Apr 2024).
S616N missense no effect - predicted BARD1 S616N lies within BRCT domain 1 of the Bard1 protein (UniProt.org). S616N demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
S660R missense loss of function - predicted BARD1 S660R does not lie within any known functional domains of the Bard1 protein (UniProt.org). S660R is predicted to confer a loss of function to the Bard1 protein, as demonstrated by decreased homology-directed DNA repair activity in cell culture (PMID: 30925164).
S704I missense unknown BARD1 S704I lies within BRCT domain 2 of the Bard1 protein (UniProt.org). S704I has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Apr 2024).
S761N missense unknown BARD1 S761N lies within BRCT domain 2 of the Bard1 protein (UniProt.org). The functional effect of S761N is conflicting, as it demonstrates homology-directed DNA repair activity similar to wild-type Bard1, but also results in a loss of growth inhibition and apoptosis in cell culture (PMID: 17848578, PMID: 16061562), reduced association with Ola1 in an in vitro assay (PMID: 29858377), decreased homology-directed DNA repair activity (PMID: 30925164), and does not bind to or stabilize Nfkb1 p50 in cell culture (PMID: 33024116), and therefore, its effect on Bard1 protein function is unknown.
T267I missense unknown BARD1 T267I does not lie within any known functional domains of the Bard1 protein (UniProt.org). T267I has not been characterized in the scientific literature and therefore, its effect on Bard1 protein function is unknown (PubMed, Apr 2024).
T343I missense unknown BARD1 T343I does not lie within any known functional domains of the Bard1 protein (UniProt.org). T343I has been associated with increased loss of heterozygosity (LOH) in patient samples and results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
T351M missense unknown BARD1 T351M does not lie within any known functional domains of the Bard1 protein (UniProt.org). T351M results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
T54A missense unknown BARD1 T54A lies within the RING-type zinc finger domain and BRCA1-interacting region of the Bard1 protein (UniProt.org). T54A results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
T598I missense loss of function - predicted BARD1 T598I lies within BRCT domain 1 of the Bard1 protein (UniProt.org). T598I is predicted to confer a loss of function to the Bard1 protein, as demonstrated by decreased homology-directed DNA repair activity in cell culture (PMID: 30925164).
T617A missense unknown BARD1 T617A lies within BRCT domain 1 of the Bard1 protein (UniProt.org). T617A results in loss of binding to Nfkb1 p50 in cell culture (PMID: 33024116), but has not been fully biochemically characterized and therefore, its effect on Bard1 protein function is unknown.
T716N missense unknown BARD1 T716N lies within BRCT domain 2 of the Bard1 protein (UniProt.org). T716N has been identified in sequencing studies (PMID: 33933153), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Nov 2023).
T719A missense unknown BARD1 T719A lies within BRCT domain 2 of the Bard1 protein (UniProt.org). T719A results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
V154fs frameshift loss of function BARD1 V154fs results in a change in the amino acid sequence of the Bard1 protein beginning at aa 154 of 777, likely resulting in premature truncation of the functional protein (UniProt.org). V154fs results in a loss of Bard1 protein expression and decreased homology-directed DNA repair activity in cell culture (PMID: 30925164).
V163M missense unknown BARD1 V163M lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). V163M has not been characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
V183L missense unknown BARD1 V183L lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). V183L has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Dec 2023).
V507A missense no effect - predicted BARD1 V507A lies within ANK repeat 3 of the Bard1 protein (UniProt.org). V507A demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
V507M missense no effect - predicted BARD1 V507M lies within ANK repeat 3 of the Bard1 protein (UniProt.org). V507M results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), but leads to similar genome stability, ubiquitin-conjugation, Brca1 and Rad51 foci formation, and DNA damage response as wild-type Bard1 in cultured cells, and is not transforming in Tp53-null cells in a mouse model (PMID: 33623049), and therefore, is predicted to have no effect on Bard1 protein function.
V510A missense unknown BARD1 V510A lies within ANK repeat 3 of the Bard1 protein (UniProt.org). V510A results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
V523A missense unknown BARD1 V523A lies within ANK repeat 3 of the Bard1 protein (UniProt.org). V523A has been associated with increased loss of heterozygosity (LOH) in patient samples, results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
V523I missense unknown BARD1 V523I lies within ANK repeat 3 of the Bard1 protein (UniProt.org). V523I results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
V695I missense unknown BARD1 V695I lies within BRCT domain 2 of the Bard1 protein (UniProt.org). V695I results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
V695L missense unknown BARD1 V695L lies within BRCT domain 2 of the Bard1 protein (UniProt.org). The functional effect of V695L is conflicting, as it demonstrates homology-directed DNA repair activity similar to wild-type Bard1, but also results in a loss of growth inhibition and apoptosis in cell culture (PMID: 17848578, PMID: 16061562), results in reduced centrosomal amplification and localization of Bard1 in cell culture, demonstrates association with Brca1 similar to wild-type Bard1 in an in-vitro assay (PMID: 29858377), and decreased homology-directed DNA repair activity (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
V713M missense unknown BARD1 V713M lies within BRCT domain 2 of the Bard1 protein (UniProt.org). V713M results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
V767fs frameshift loss of function BARD1 V767fs results in a change in the amino acid sequence of the Bard1 protein beginning at aa 767 of 777, likely resulting in premature truncation of the functional protein (UniProt.org). V767fs results in decreased homology-directed DNA repair activity, leading to increased sensitivity to DNA damaging agents in cell culture (PMID: 30925164).
V85L missense no effect - predicted BARD1 V85L lies within the RING-type zinc finger domain and BRCA1-interacting region of the Bard1 protein (UniProt.org). V85L demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function.
W146C missense unknown BARD1 W146C lies within the Rad51-interacting domain of the Bard1 protein (PMID: 28976962). W146C retains the ability to bind Brca1 (PMID: 26350354), but results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.
W34R missense loss of function - predicted BARD1 W34R lies within the BRCA1-interacting region of the Bard1 protein (UniProt.org). W34R is predicted to confer a loss of function to the Bard1 protein, as demonstrated by decreased homology-directed DNA repair activity in cell culture (PMID: 30925164).
wild-type none no effect Wild-type BARD1 indicates that no mutation has been detected within the BARD1 gene.
Y533F missense unknown BARD1 Y533F lies within degenerate ANK repeat 4 of the Bard1 protein (UniProt.org). Y533F results in a decrease of homology-directed DNA repair activity that is not statistically significant in cell culture (PMID: 30925164), and therefore, its effect on Bard1 protein function is unknown.