ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.572-1854_705+2812del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003444455 SCV004171520 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 3 2023-10-26 criteria provided, single submitter clinical testing The RAD51C c.572-1854_705+2812del variant is a gross deletion of the genomic region encompassing exon 4 of the RAD51C gene. The 5’ end is likely confined to intron 3. The 3’ end of this event is likely confined to intron 4. This deletion is predicted to cause a frameshift and the creation of a premature stop codon (p.Glu191Glyfs*16). This change is predicted to cause protein truncation or absence of protein due to nonsense-mediated decay. Deletions including exon 4 of RAD51C have been reported in the literature in individuals with hereditary breast and ovarian cancer (PMID: 28888541, 32107557, 33219106, 34487234). Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120). In summary, this variant meets criteria to be classified as likely pathogenic.

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