ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2626G>T (p.Gly876Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004018112 SCV004847896 likely pathogenic Hereditary breast ovarian cancer syndrome 2019-10-14 criteria provided, single submitter clinical testing The p.Gly876X variant in BRCA1 has not been previously reported in individuals with hereditary breast and/or ovarian cancer (HBOC) and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 876, which is predicted to lead to a truncated or absent protein. Loss of function of the BRCA1 gene is an established disease mechanism in autosomal dominant HBOC. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal dominant HBOC. ACMG/AMP Criteria applied: PVS1, PM2.

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