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| Gene | RAD51C |
| Variant | F164L |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | RAD51C F164L does not lie within any known functional domains of the Rad51c protein (UniProt.org). F164L results in reduced interaction with Rad51d in a yeast assay (PMID: 40670332), and a genomic change (c.490T>A) demonstrates decreased survival in a high-throughput cell culture assay (PMID: 39299233), but demonstrates functional homology-directed DNA repair activity in culture, and rescues cisplatin sensitivity in Rad51c-deficient cells (PMID: 40670332), and therefore, its effect on Rad51c protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51C mutant RAD51C F164L |
| Transcript | NM_058216.3 |
| gDNA | chr17:g.58696778T>C |
| cDNA | c.490T>C |
| Protein | p.F164L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_047436505.1 | chr17:g.58696778T>C | c.490T>C | p.F164L | RefSeq | GRCh38/hg38 |
| XM_006722002.5 | chr17:g.58696778T>C | c.490T>C | p.F164L | RefSeq | GRCh38/hg38 |
| NM_058216.3 | chr17:g.58696778T>C | c.490T>C | p.F164L | RefSeq | GRCh38/hg38 |
| XM_006722001.5 | chr17:g.58696778T>C | c.490T>C | p.F164L | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| RAD51C F164L | Advanced Solid Tumor | no benefit | Cisplatin | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing RAD51C F164L were not sensitive to Platinol (cisplatin) in culture (PMID: 40670332). | 40670332 |