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| Gene | RAD51D |
| Variant | K91Ifs*13 |
| Impact List | frameshift |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | RAD51D K91Ifs*13 indicates a shift in the reading frame starting at amino acid 91 and terminating 13 residues downstream causing a premature truncation of the 328 amino acid Rad51d protein (UniProt.org). K91Ifs*13 results in similar levels of migration compared to wild-type Rad51d but fails to inhibit cell proliferation and results in increased sensitivity to PARP inhibitors in Rad51d knock-out cells in culture (PMID: 38905575), and therefore, is predicted to lead to a loss of Rad51d protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51D mutant RAD51D inact mut RAD51D K91fs RAD51D K91Ifs*13 |
| Transcript | NM_002878.4 |
| gDNA | chr17:g.35107441_35107442dupAT |
| cDNA | c.270_271dupTA |
| Protein | p.K91Ifs*13 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002878.4 | chr17:g.35107441_35107442dupAT | c.270_271dupTA | p.K91Ifs*13 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| RAD51D K91Ifs*13 | ovarian cancer | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, Lynparza (olaparib) inhibited viability of ovarian cancer cell lines expressing RAD51D K91Ifs*13 in culture (PMID: 38905575). | 38905575 |
| RAD51D K91Ifs*13 | ovarian cancer | sensitive | Niraparib | Preclinical - Cell culture | Actionable | In a preclinical study, Zejula (niraparib) inhibited viability of ovarian cancer cell lines expressing RAD51D K91Ifs*13 in culture (PMID: 38905575). | 38905575 |