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Gene | BARD1 |
Variant | D612fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | 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. |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 inact mut BARD1 D612fs |
Transcript | NM_000465.4 |
gDNA | chr2:g.(214745136_214745137) |
cDNA | c.(1834_1833) |
Protein | p.D612fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000465.3 | chr2:g.(214745136_214745137) | c.(1834_1833) | p.D612fs | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.(214745136_214745137) | c.(1834_1833) | p.D612fs | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.(214745136_214745137) | c.(1834_1833) | p.D612fs | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.(214745136_214745137) | c.(1834_1833) | p.D612fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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