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Gene | BARD1 |
Variant | V767fs |
Impact List | frameshift |
Protein Effect | loss of function |
Gene Variant Descriptions | 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). |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 inact mut BARD1 V767fs |
Transcript | NM_000465.4 |
gDNA | chr2:g.(214728711_214728712) |
cDNA | c.(2299_2298) |
Protein | p.V767fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000465 | chr2:g.(214728711_214728712) | c.(2299_2298) | p.V767fs | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.(214728711_214728712) | c.(2299_2298) | p.V767fs | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.(214728711_214728712) | c.(2299_2298) | p.V767fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BARD1 V767fs | cervical cancer | sensitive | Cisplatin | Preclinical - Cell culture | Actionable | In a preclinical study, cisplatin treatment of HeLa cells expressing Bard1 P707S were more sensitive than wild-type Bard1 expressing cells, as demonstrated by decreased colony formation (PMID: 30925164). | 30925164 |