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Gene RAD51C
Variant A308T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RAD51C A308T does not lie within any known functional domains of the Rad51c protein (UniProt.org). The functional effect of A308T is conflicting as it results in decreased interaction with Rad51d in a yeast assay and decreased homologous recombination (HR) activity in one cell line but demonstrates proficient HR activity in another cell line, rescues survival of RAD51C-null cells in culture, and retains interaction with Rad51b and Xrcc3 in a yeast assay (PMID: 36099300).
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C A308T

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Transcript NM_058216.3
gDNA chr17:g.58724057G>A
cDNA c.922G>A
Protein p.A308T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_058216.3 chr17:g.58724057G>A c.922G>A p.A308T RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58724057G>A c.922G>A p.A308T RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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")

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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...