ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.272G>A (p.Cys91Tyr)

dbSNP: rs1559591264
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702047 SCV000830876 uncertain significance BAP1-related tumor predisposition syndrome 2018-03-19 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 91 of the BAP1 protein (p.Cys91Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BAP1-related disease. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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