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Gene | BARD1 |
Variant | C469R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | 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). |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 C469R |
Transcript | NM_000465.4 |
gDNA | chr2:g.214767645A>G |
cDNA | c.1405T>C |
Protein | p.C469R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047445350.1 | chr2:g.214767645A>G | c.1405T>C | p.C469R | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214767645A>G | c.1405T>C | p.C469R | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214767645A>G | c.1405T>C | p.C469R | 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 |