ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.464G>A (p.Arg155Lys) (rs377639990)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centro de Genética y Biología Molecular,Universidad de San Martín de Porres RCV000239453 SCV000282661 uncertain significance Breast-ovarian cancer, familial 2 2016-06-06 criteria provided, single submitter clinical testing No present in population-based study (100 controls)
Invitae RCV000461803 SCV000549583 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-09-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 155 of the BRCA2 protein (p.Arg155Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in a family with hereditary breast and/or ovarian cancer (PMID: 28944232). ClinVar contains an entry for this variant (Variation ID: 253032). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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