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Gene RAD51C
Variant E45D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RAD51C E45D lies within a region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). E45D has been identified in sequencing studies (PMID: 24185509), 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 E45D

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Transcript NM_058216.3
gDNA chr17:g.58692778G>C
cDNA c.135G>C
Protein p.E45D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002876.4 chr17:g.58692778G>C c.135G>C p.E45D RefSeq GRCh38/hg38
NM_058216 chr17:g.58692778G>C c.135G>C p.E45D RefSeq GRCh38/hg38
XM_006722001 chr17:g.58692778G>C c.135G>C p.E45D RefSeq GRCh38/hg38
NM_002876.3 chr17:g.58692778G>C c.135G>C p.E45D RefSeq GRCh38/hg38
XM_006722001.5 chr17:g.58692778G>C c.135G>C p.E45D RefSeq GRCh38/hg38
NM_058216.2 chr17:g.58692778G>C c.135G>C p.E45D RefSeq GRCh38/hg38
NM_002876 chr17:g.58692778G>C c.135G>C p.E45D RefSeq GRCh38/hg38
XM_006722002.5 chr17:g.58692778G>C c.135G>C p.E45D RefSeq GRCh38/hg38
XM_006722002 chr17:g.58692778G>C c.135G>C p.E45D RefSeq GRCh38/hg38
NM_058216.3 chr17:g.58692778G>C c.135G>C p.E45D RefSeq GRCh38/hg38
XM_006722002.4 chr17:g.58692778G>C c.135G>C p.E45D RefSeq GRCh38/hg38
XM_047436505.1 chr17:g.58692778G>C c.135G>C p.E45D RefSeq GRCh38/hg38
XM_006722001.4 chr17:g.58692778G>C c.135G>C p.E45D RefSeq GRCh38/hg38

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Sorting

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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...