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| Gene | RAD51C |
| Variant | G302V |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | RAD51C G302V does not lie within any known functional domains of the Rad51c protein (UniProt.org). G302V binds to Rad51d and Xrcc2 and supports cell proliferation to similar levels as wild-type Rad51c, but results in loss of interaction with Xrcc3, altered Rad51 foci formation, and reduced homology-directed DNA repair activity in culture (PMID: 37253112), and therefore, is predicted to lead to a loss of Rad51c protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C G302V |
| Transcript | NM_058216.3 |
| gDNA | chr17:g.58724040G>T |
| cDNA | c.905G>T |
| Protein | p.G302V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_058216.3 | chr17:g.58724040G>T | c.905G>T | p.G302V | RefSeq | GRCh38/hg38 |
| XM_006722001.5 | chr17:g.58724040G>T | c.905G>T | p.G302V | RefSeq | GRCh38/hg38 |
| NM_058216.2 | chr17:g.58724040G>T | c.905G>T | p.G302V | RefSeq | GRCh38/hg38 |
| XM_006722002.5 | chr17:g.58732484G>T | c.905G>T | p.G302V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| RAD51C G302V | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, the expression of RAD51C G302V sensitized RAD51C-deficient cells to Lynparza (olaparib) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). | 37253112 |
| RAD51C G302V | Advanced Solid Tumor | sensitive | Cisplatin | Preclinical - Cell culture | Actionable | In a preclinical study, the expression of RAD51C G302V sensitized RAD51C-deficient cells to Platinol (cisplatin) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). | 37253112 |