ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7895C>A (p.Ala2632Glu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004771986 SCV005385199 uncertain significance not provided 2024-01-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as 8123C>A; This variant is associated with the following publications: (PMID: 12228710)
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV004810714 SCV005431455 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2024-12-04 criteria provided, single submitter clinical testing The following ACMG criteria is used: PM2_SUP; PP3; PS3_SUP
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV005230790 SCV005872797 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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