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| Gene | BARD1 |
| Variant | R21G |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | BARD1 R21G does not lie within any known functional domains of the Bard1 protein (UniProt.org). R21G demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 39387837), and therefore, is predicted to have no effect on Bard1 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
BARD1 mutant BARD1 R21G |
| Transcript | NM_000465.4 |
| gDNA | chr2:g.214809509G>C |
| cDNA | c.61C>G |
| Protein | p.R21G |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001282548.2 | chr2:g.214809509G>C | c.61C>G | p.R21G | RefSeq | GRCh38/hg38 |
| XM_017004613.2 | chr2:g.214809509G>C | c.61C>G | p.R21G | RefSeq | GRCh38/hg38 |
| NM_001282543.2 | chr2:g.214809509G>C | c.61C>G | p.R21G | RefSeq | GRCh38/hg38 |
| NM_001282549.2 | chr2:g.214809509G>C | c.61C>G | p.R21G | RefSeq | GRCh38/hg38 |
| NM_001282545.2 | chr2:g.214809509G>C | c.61C>G | p.R21G | RefSeq | GRCh38/hg38 |
| NM_000465.4 | chr2:g.214809509G>C | c.61C>G | p.R21G | RefSeq | GRCh38/hg38 |
| XM_047445350.1 | chr2:g.214809509G>C | c.61C>G | p.R21G | RefSeq | GRCh38/hg38 |
| XM_017004614.2 | chr2:g.214809509G>C | c.61C>G | p.R21G | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| BARD1 mutant | breast cancer | not applicable | N/A | Guideline | Risk Factor | Germline BARD1 mutations are associated with increased risk of developing breast cancer (NCCN.org). | detail... |
| 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 |