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Gene | RAD51C |
Variant | A279D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51C A279D does not lie within any known functional domains of the Rad51c protein (UniProt.org). A279D has not been characterized in the scientific literature and therefore, its effect on Rad51c protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C A279D |
Transcript | NM_058216.3 |
gDNA | chr17:g.58709989C>A |
cDNA | c.836C>A |
Protein | p.A279D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_058216 | chr17:g.58709989C>A | c.836C>A | p.A279D | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58709989C>A | c.836C>A | p.A279D | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58709989C>A | c.836C>A | p.A279D | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58709989C>A | c.836C>A | p.A279D | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58709989C>A | c.836C>A | p.A279D | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58709989C>A | c.836C>A | p.A279D | RefSeq | GRCh38/hg38 |
XM_006722002 | chr17:g.58709989C>A | c.836C>A | p.A279D | RefSeq | GRCh38/hg38 |
XM_006722001 | chr17:g.58709989C>A | c.836C>A | p.A279D | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58709989C>A | c.836C>A | p.A279D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RAD51C mutant | ovarian cancer | not applicable | N/A | Guideline | Risk Factor | Germline RAD51C mutations are associated with increased risk of developing ovarian cancer (NCCN.org). | detail... |
RAD51C mutant | ovarian serous carcinoma | predicted - sensitive | Olaparib | Case Reports/Case Series | Actionable | In a clinical case study, Lynparza (olaparib) treatment resulted in a complete response with treatment ongoing at 14 months in a patient with relapsed, metastatic high grade serous ovarian carcinoma harboring RAD51C mutations (PMID: 36176748). | 36176748 |
RAD51C mutant | breast cancer | not applicable | N/A | Guideline | Risk Factor | Germline RAD51C mutations are associated with increased risk of developing breast cancer (NCCN.org). | detail... |