ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1687T>C (p.Trp563Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004017137 SCV004846947 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2023-04-10 criteria provided, single submitter clinical testing This missense variant replaces tryptophan with arginine at codon 563 of the BRCA2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature and has been reported in 1 unaffected individual (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA2_007867). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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