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Gene | RAD51C |
Variant | L138F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51C L138F does not lie within any known functional domains of the Rad51c protein (UniProt.org). L138F is conflicting as it demonstrates homologous recombination activity similar to wild-type Rad51c in one cell line but deficient activity in another cell line, and rescues survival in Rad51c-null cells in culture (PMID: 36099300), but results in a loss of interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay (PMID: 36099300), decreased Rad51 foci formation in cell culture, and failure to rescue mitomycin C hypersensitivity (PMID: 20400964), and therefore, its effect on Rad51c protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C L138F |
Transcript | NM_058216.3 |
gDNA | chr17:g.58696702G>T |
cDNA | c.414G>T |
Protein | p.L138F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006722002 | chr17:g.58696702G>T | c.414G>T | p.L138F | RefSeq | GRCh38/hg38 |
XM_006722001 | chr17:g.58696702G>T | c.414G>T | p.L138F | RefSeq | GRCh38/hg38 |
XM_017024917.1 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
XM_017024918.2 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
XM_017024919 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58696702G>T | c.414G>T | p.L138F | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58696702G>T | c.414G>T | p.L138F | RefSeq | GRCh38/hg38 |
XM_017024916.1 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
XM_017024915 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58696702G>T | c.414G>T | p.L138F | RefSeq | GRCh38/hg38 |
XM_011525093.2 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
XM_017024917 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
XM_017024919.1 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
XM_006722005.3 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
XM_011525094.2 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58696702G>T | c.414G>T | p.L138F | RefSeq | GRCh38/hg38 |
XM_017024915.1 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
XM_017024914 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
XM_011525092 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
NM_058216 | chr17:g.58696702G>T | c.414G>T | p.L138F | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58696702G>T | c.414G>T | p.L138F | RefSeq | GRCh38/hg38 |
XM_011525092.2 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58696702G>T | c.414G>T | p.L138F | RefSeq | GRCh38/hg38 |
XM_017024916 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
XM_011525093 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
XM_011525094.3 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
XM_017024918 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
XM_006722004.3 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
XM_006722005 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
XM_006722004.4 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
XM_006722004 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58696702G>T | c.414G>T | p.L138F | RefSeq | GRCh38/hg38 |
XM_017024914.1 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
XM_011525094 | chr17:g.58709916_58709918delCTGinsTTT | c.412_414delCTGinsTTT | p.L138F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RAD51C L138F | Advanced Solid Tumor | sensitive | Cisplatin | Preclinical - Cell culture | Actionable | In a preclinical study, the expression of RAD51C L138F sensitized RAD51C-deficient cells to Platinol (cisplatin) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). | 37253112 |
RAD51C L138F | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, the expression of RAD51C L138F sensitized RAD51C-deficient cells to Lynparza (olaparib) treatment in culture, resulting in decreased cell proliferation (PMID: 37253112). | 37253112 |