Gene Variant Detail

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Gene RAD51C
Variant H192_R193delinsGG
Impact List indel
Protein Effect no effect
Gene Variant Descriptions RAD51C H192_R193delinsGG results in a deletion of two amino acids in the Rad51c protein combined with the insertion of two new amino acids in the same location (UniProt.org). H192_R193delinsGG, described as a reversion mutation, has no effect on Rad51c protein function, as demonstrated by restoration of homologous recombination function similar to wild-type Rad51c in cultured cells, and is associated with acquired resistance to PARP inhibitors (PMID: 28588062).
Associated Drug Resistance Y

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Transcript NM_058216.2
gDNA chr17:g.58703198_58703203delinsGGTGGT
cDNA c.574_579delinsGGTGGT
Protein p.H192_R193delinsGG
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_058216 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
XM_006722002.4 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
XM_006722002 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
XM_006722001 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
XM_006722001.4 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38
NM_058216.2 chr17:g.58703198_58703203delinsGGTGGT c.574_579delinsGGTGGT p.H192_R193delinsGG RefSeq GRCh38/hg38

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RAD51C H192_R193delinsGG ovarian carcinoma resistant Niraparib Preclinical - Cell culture Actionable In a preclinical study, ovarian carcinoma cells expressing RAD51C H192_R193delinsGG demonstrated resistance to Zejula (niraparib) in culture (PMID: 28588062). 28588062
RAD51C H192_R193delinsGG ovarian carcinoma resistant Veliparib Preclinical - Cell culture Actionable In a preclinical study, ovarian carcinoma cells expressing RAD51C H192_R193delinsGG demonstrated resistance to Veliparib (ABT-888) in culture (PMID: 28588062). 28588062
RAD51C H192_R193delinsGG ovarian carcinoma resistant Olaparib Preclinical - Cell culture Actionable In a preclinical study, ovarian carcinoma cells expressing RAD51C H192_R193delinsGG demonstrated resistance to Lynparza (olaparib) in culture (PMID: 28588062). 28588062
RAD51C H192_R193delinsGG ovarian carcinoma resistant Rucaparib Preclinical - Cell culture Actionable In a preclinical study, ovarian carcinoma cells expressing RAD51C H192_R193delinsGG demonstrated resistance to Rubraca (rucaparib) in culture (PMID: 28588062). 28588062
RAD51C H192_R193delinsGG ovarian carcinoma resistant Talazoparib Preclinical - Cell culture Actionable In a preclinical study, ovarian carcinoma cells expressing RAD51C H192_R193delinsGG demonstrated resistance to Talazoparib (BMN-673) in culture (PMID: 28588062). 28588062
RAD51C H192_R193delinsGG RAD51C R193* RAD51C R193L RAD51C R193W ovarian carcinoma predicted - resistant Rucaparib Case Reports/Case Series Actionable In a clinical case study, an ovarian carcinoma patient harboring a RAD51C R193* germline mutation developed resistance to Rubraca (rucaparib) after acquisition of RAD51C R193W, RAD51C H192_R193delinsGG, and RAD51C R193L (PMID: 28588062). 28588062
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
RAD51C H192_R193delinsGG no effect
RAD51C H192_R193delinsGG RAD51C R193* RAD51C R193L RAD51C R193W