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Gene RAD51D
Variant G112A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RAD51D G112A lies within the Walker A motif region of the Rad51d protein (PMID: 30836272). G112A fails to restore mitomycin-induced DNA damage in culture and demonstrates reduced ability to interact with Xrcc2 and Rad51c in yeast assays (PMID: 16236763).
Associated Drug Resistance
Category Variants Paths

RAD51D mutant RAD51D inact mut RAD51D G112A

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Transcript NM_002878.4
gDNA chr17:g.35107376C>G
cDNA c.335G>C
Protein p.G112A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002878.3 chr17:g.35107376C>G c.335G>C p.G112A RefSeq GRCh38/hg38
NM_002878.4 chr17:g.35107376C>G c.335G>C p.G112A RefSeq GRCh38/hg38
NM_002878 chr17:g.35107376C>G c.335G>C p.G112A 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 )
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  • 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
RAD51D inact mut prostate cancer sensitive Olaparib FDA approved - On Companion Diagnostic Actionable In a Phase III trial (PROfound) that supported FDA approval, Lynparza (olaparib) treatment significantly improved median imaging-based progression-free survival (5.8 vs 3.5 mo, HR 0.49, p<0.001) compared to control in patients with metastatic castration-resistant prostate cancer who progressed on hormone therapy and harbored deleterious or suspected deleterious mutations in homologous recombination repair genes, including RAD51D (PMID: 32343890; NCT02987543). detail... detail... 32343890
RAD51D inact mut prostate cancer sensitive Olaparib Guideline Actionable Lynparza (olaparib) is included in guidelines as second-line therapy post androgen receptor-directed therapy for patients with metastatic castration-resistant prostate cancer harboring pathogenic mutations in RAD51D (NCCN.org). detail...
RAD51D mutant breast cancer not applicable N/A Guideline Risk Factor Germline RAD51D mutations are associated with increased risk of developing breast cancer (NCCN.org). detail...
RAD51D mutant ovarian cancer not applicable N/A Guideline Risk Factor Germline RAD51D mutations are associated with increased risk of developing ovarian cancer (NCCN.org). detail...