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Gene | RAD51C |
Variant | R193L |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | RAD51C R193L does not lie within any known functional domains of the Rad51c protein (UniProt.org). R193L, described as a reversion mutation, has no effect on Rad51c protein function, as demonstrated by restoration of homologous recombination function similar to wild-type Rad51c in cultured cells, and is associated with acquired resistance to PARP inhibitors (PMID: 28588062). |
Associated Drug Resistance | Y |
Category Variants Paths |
RAD51C mutant RAD51C R193L |
Transcript | NM_058216.3 |
gDNA | chr17:g.58703202G>T |
cDNA | c.578G>T |
Protein | p.R193L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006722001.4 | chr17:g.58703202G>T | c.578G>T | p.R193L | RefSeq | GRCh38/hg38 |
NM_058216 | chr17:g.58703202G>T | c.578G>T | p.R193L | RefSeq | GRCh38/hg38 |
XM_006722002 | chr17:g.58703202G>T | c.578G>T | p.R193L | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58703202G>T | c.578G>T | p.R193L | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58703202G>T | c.578G>T | p.R193L | RefSeq | GRCh38/hg38 |
XM_006722001 | chr17:g.58703202G>T | c.578G>T | p.R193L | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58703202G>T | c.578G>T | p.R193L | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58703202G>T | c.578G>T | p.R193L | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58703202G>T | c.578G>T | p.R193L | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58703202G>T | c.578G>T | p.R193L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RAD51C R193L | ovarian carcinoma | resistant | Talazoparib | Preclinical - Cell culture | Actionable | In a preclinical study, ovarian carcinoma cells expressing RAD51C R193L demonstrated resistance to Talzenna (talazoparib) in culture (PMID: 28588062). | 28588062 |
RAD51C R193L | ovarian carcinoma | resistant | Niraparib | Preclinical - Cell culture | Actionable | In a preclinical study, ovarian carcinoma cells expressing RAD51C R193L demonstrated resistance to Zejula (niraparib) in culture (PMID: 28588062). | 28588062 |
RAD51C R193L | ovarian carcinoma | resistant | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, ovarian carcinoma cells expressing RAD51C R193L demonstrated resistance to Lynparza (olaparib) in culture (PMID: 28588062). | 28588062 |
RAD51C R193L | ovarian carcinoma | resistant | Rucaparib | Preclinical - Cell culture | Actionable | In a preclinical study, ovarian carcinoma cells expressing RAD51C R193L demonstrated resistance to Rubraca (rucaparib) in culture (PMID: 28588062). | 28588062 |