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Gene | BARD1 |
Variant | D612V |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | 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. |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 D612V |
Transcript | NM_000465.4 |
gDNA | chr2:g.214745135T>A |
cDNA | c.1835A>T |
Protein | p.D612V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047445350.1 | chr2:g.214745135T>A | c.1835A>T | p.D612V | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.214745135T>A | c.1835A>T | p.D612V | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214745135T>A | c.1835A>T | p.D612V | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214745135T>A | c.1835A>T | p.D612V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BARD1 mutant | breast cancer | no benefit | Olaparib | Case Reports/Case Series | Actionable | In a Phase II trial (TBCRC 048), Lynparza (olaparib) treatment did not result in an objective response in a patient with metastatic breast cancer harboring a germline mutation in BARD1 (PMID: 33119476; NCT03344965). | 33119476 |