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Gene | BARD1 |
Variant | G700Afs*14 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | 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. |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 inact mut BARD1 G700Afs*14 |
Transcript | NM_000465.4 |
gDNA | chr2:g.214728915delC |
cDNA | c.2099delG |
Protein | p.G700Afs*14 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000465.4 | chr2:g.214728915delC | c.2099delG | p.G700Afs*14 | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.214728915delC | c.2099delG | p.G700Afs*14 | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214728915delC | c.2099delG | p.G700Afs*14 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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