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| Gene | RAD51C |
| Variant | N71K |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | RAD51C N71K lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). N71K retains binding to Rad51d similar to wild-type Rad51c in a yeast assay, and demonstrates functional homology-directed DNA repair activity in culture (PMID: 40670332), and therefore is predicted to have no effect on Rad51c protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51C mutant RAD51C N71K |
| Transcript | NM_058216.3 |
| gDNA | chr17:g.58694998T>G |
| cDNA | c.213T>G |
| Protein | p.N71K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006722002.5 | chr17:g.58694998T>G | c.213T>G | p.N71K | RefSeq | GRCh38/hg38 |
| NM_058216.3 | chr17:g.58694998T>G | c.213T>G | p.N71K | RefSeq | GRCh38/hg38 |
| XM_006722001.5 | chr17:g.58694998T>G | c.213T>G | p.N71K | RefSeq | GRCh38/hg38 |
| XM_047436505.1 | chr17:g.58694998T>G | c.213T>G | p.N71K | RefSeq | GRCh38/hg38 |
| NM_002876.4 | chr17:g.58694998T>G | c.213T>G | p.N71K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| 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... |
| 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 | ovarian cancer | not applicable | N/A | Guideline | Risk Factor | Germline RAD51C mutations are associated with increased risk of developing ovarian cancer (NCCN.org). | detail... |