ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6592G>A (p.Glu2198Lys)

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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 RCV004018157 SCV004848612 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing The p.Glu2198Lys variant in BRCA2 has not been previously reported in individuals with cancer and was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: BP4, PM2_P.

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