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| Gene | RAD51D |
| Variant | G258Sfs*50 |
| Impact List | frameshift |
| Protein Effect | unknown |
| Gene Variant Descriptions | RAD51D G258Sfs*50 indicates a shift in the reading frame starting at amino acid 258 and terminating 50 residues downstream causing a premature truncation of the 328 amino acid Rad51d protein (UniProt.org). G258Sfs*50 has been identified in the scientific literature (PMID: 28588062), but has not been biochemically characterized and therefore, its effect on Rad51d protein function is unknown (PubMed, Jun 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51D mutant RAD51D G258Sfs*50 |
| Transcript | NM_002878.4 |
| gDNA | chr17:g.(35101016_35101332) |
| cDNA | c.(772_924) |
| Protein | p.G258Sfs*50 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002878.3 | chr17:g.(35101016_35101332) | c.(772_924) | p.G258Sfs*50 | RefSeq | GRCh38/hg38 |
| NM_002878 | chr17:g.(35101016_35101332) | c.(772_924) | p.G258Sfs*50 | RefSeq | GRCh38/hg38 |
| NM_002878.4 | chr17:g.(35101016_35101332) | c.(772_924) | p.G258Sfs*50 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| RAD51D G258Sfs*50 | ovarian carcinoma | sensitive | Rucaparib | Preclinical - Cell culture | Actionable | In a clinical study, an ovarian carcinoma patient harboring a RAD51D G258Sfs*50 germline mutation demonstrated stable disease when treated with Rubraca (rucaparib) (PMID: 28588062). | 28588062 |