ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.1952A>G (p.Lys651Arg)

dbSNP: rs1578219024
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807938 SCV000948018 uncertain significance BAP1-related tumor predisposition syndrome 2022-03-20 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 651 of the BAP1 protein (p.Lys651Arg). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 652402). This variant has not been reported in the literature in individuals affected with BAP1-related conditions. This variant is not present in population databases (gnomAD no frequency).
Color Diagnostics, LLC DBA Color Health RCV001178931 SCV001343496 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV001178931 SCV002718804 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-11 criteria provided, single submitter clinical testing The p.K651R variant (also known as c.1952A>G), located in coding exon 15 of the BAP1 gene, results from an A to G substitution at nucleotide position 1952. The lysine at codon 651 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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