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Gene RAD51C
Variant G264S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RAD51C G264S does not lie within any known functional domains of the Rad51c protein (UniProt.org). The functional effect of G264S is conflicting as it results in accumulation of replication stress and decreased cell growth (PMID: 37488098), moderately decreased DNA damage response, interstrand cosslink repair (PMID: 22167183), and homologous recombination in cultured cells (PMID: 22167183, PMID: 25292178), but retains binding with Xrcc3 and activates Chek2 similar to wild-type protein in culture (PMID: 22167183), rescues MMC sensitivity (PMID: 20400964), and demonstrated proficient HDR activity in culture (PMID: 37488098), and therefore, its effect on Rad51c protein function is unknown.
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C G264S

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Transcript NM_058216.3
gDNA chr17:g.58709943G>A
cDNA c.790G>A
Protein p.G264S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006722001 chr17:g.58709943G>A c.790G>A p.G264S RefSeq GRCh38/hg38
XM_006722002 chr17:g.58709943G>A c.790G>A p.G264S RefSeq GRCh38/hg38
XM_006722001.4 chr17:g.58709943G>A c.790G>A p.G264S RefSeq GRCh38/hg38
NM_058216.2 chr17:g.58709943G>A c.790G>A p.G264S RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58709943G>A c.790G>A p.G264S RefSeq GRCh38/hg38
NM_058216 chr17:g.58709943G>A c.790G>A p.G264S RefSeq GRCh38/hg38
XM_006722002.4 chr17:g.58709943G>A c.790G>A p.G264S RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58709943G>A c.790G>A p.G264S RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58709943G>A c.790G>A p.G264S RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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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...