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Gene | RAD51C |
Variant | R237* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51C R237* results in a premature truncation of the Rad51c protein at amino acid 237 of 376 (UniProt.org). R237* has been identified in the scientific literature (PMID: 37129948, PMID: 36451132), but has not been biochemically characterized and therefore, its effect on Rad51c protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C R237* |
Transcript | NM_058216.3 |
gDNA | chr17:g.58709862C>T |
cDNA | c.709C>T |
Protein | p.R237* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_058216.3 | chr17:g.58709862C>T | c.709C>T | p.R237* | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58709862C>T | c.709C>T | p.R237* | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58709862C>T | c.709C>T | p.R237* | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58709862C>T | c.709C>T | p.R237* | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58709862C>T | c.709C>T | p.R237* | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58709862C>T | c.709C>T | p.R237* | 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... |