ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.1544A>G (p.Asn515Ser)

dbSNP: rs2153226674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001908861 SCV002173654 uncertain significance BAP1-related tumor predisposition syndrome 2021-08-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BAP1-related conditions. 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. 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. This sequence change replaces asparagine with serine at codon 515 of the BAP1 protein (p.Asn515Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency).
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493890 SCV004243163 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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