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Gene | RAD51C |
Variant | G125V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RAD51C G125V lies within a region of the Rad51c protein required for Holliday junction resolution activity and the RAD51B, RAD51D, and XRCC3-interacting region (UniProt.org). G125V confers a loss of function to the Rad51c protein as indicated by failure to rescue mitomycin C hypersensitivity, decreased Rad51 foci formation in cell culture (PMID: 20400964), decreased interaction with Rad51b, Rad51d, Xrcc3, and DNA in in vitro assays, reduced homologous recombination activity in cultured cells, and failure to rescue survival in Rad51c-null cells in culture (PMID: 36099300). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C G125V |
Transcript | NM_058216.3 |
gDNA | chr17:g.58695159G>T |
cDNA | c.374G>T |
Protein | p.G125V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006722001.4 | chr17:g.58695159G>T | c.374G>T | p.G125V | RefSeq | GRCh38/hg38 |
NM_058216 | chr17:g.58695159G>T | c.374G>T | p.G125V | RefSeq | GRCh38/hg38 |
XM_006722001 | chr17:g.58695159G>T | c.374G>T | p.G125V | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58695159G>T | c.374G>T | p.G125V | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58695159G>T | c.374G>T | p.G125V | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58695159G>T | c.374G>T | p.G125V | RefSeq | GRCh38/hg38 |
NM_002876.3 | chr17:g.58695159G>T | c.374G>T | p.G125V | RefSeq | GRCh38/hg38 |
XM_006722002 | chr17:g.58695159G>T | c.374G>T | p.G125V | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58695159G>T | c.374G>T | p.G125V | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58695159G>T | c.374G>T | p.G125V | RefSeq | GRCh38/hg38 |
NM_002876 | chr17:g.58695159G>T | c.374G>T | p.G125V | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58695159G>T | c.374G>T | p.G125V | RefSeq | GRCh38/hg38 |
NM_002876.4 | chr17:g.58695159G>T | c.374G>T | p.G125V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RAD51C G125V | Advanced Solid Tumor | sensitive | Cisplatin | Preclinical - Cell culture | Actionable | In a preclinical study, the expression of RAD51C G125V sensitized RAD51C-deficient cells to Platinol (cisplatin) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). | 37253112 |
RAD51C G125V | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, the expression of RAD51C G125V sensitized RAD51C-deficient cells to Lynparza (olaparib) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). | 37253112 |