Gene Variant Detail

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Gene RAD51C
Variant P247L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RAD51C P247L does not lie within any known functional domains of the Rad51c protein (UniProt.org). P247L is conflicting as it demonstrates homologous recombination activity similar to wild-type in one cell line but reduced in another, rescues survival in Rad51c-null cells in culture, and results in variable interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay (PMID: 36099300), and therefore, its effect on Rad51c protein function is unknown.
Associated Drug Resistance
Category Variants Paths

RAD51C mutant RAD51C P247L

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Transcript NM_058216.3
gDNA chr17:g.58709893C>T
cDNA c.740C>T
Protein p.P247L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006722001.4 chr17:g.58709893C>T c.740C>T p.P247L RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58709893C>T c.740C>T p.P247L RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58709893C>T c.740C>T p.P247L RefSeq GRCh38/hg38
NM_058216.2 chr17:g.58709893C>T c.740C>T p.P247L RefSeq GRCh38/hg38
XM_006722002.4 chr17:g.58709893C>T c.740C>T p.P247L RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58709893C>T c.740C>T p.P247L 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")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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...
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...