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Gene | RAD51C |
Variant | P21T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51C P21T lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). P21T has been identified in the scientific literature (PMID: 36099300), 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 P21T |
Transcript | NM_058216.3 |
gDNA | chr17:g.58692704C>A |
cDNA | c.61C>A |
Protein | p.P21T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002876.3 | chr17:g.58692704C>A | c.61C>A | p.P21T | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58692704C>A | c.61C>A | p.P21T | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58692704C>A | c.61C>A | p.P21T | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58692704C>A | c.61C>A | p.P21T | RefSeq | GRCh38/hg38 |
NM_002876.4 | chr17:g.58692704C>A | c.61C>A | p.P21T | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58692704C>A | c.61C>A | p.P21T | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58692704C>A | c.61C>A | p.P21T | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58692704C>A | c.61C>A | p.P21T | RefSeq | GRCh38/hg38 |
XM_006722002.5 | chr17:g.58692704C>A | c.61C>A | p.P21T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
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... |
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 | breast cancer | not applicable | N/A | Guideline | Risk Factor | Germline RAD51C mutations are associated with increased risk of developing breast cancer (NCCN.org). | detail... |