ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.1257G>T (p.Lys419Asn)

dbSNP: rs1437342810
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707041 SCV000836121 uncertain significance BAP1-related tumor predisposition syndrome 2018-02-06 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 419 of the BAP1 protein (p.Lys419Asn). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and asparagine. 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BAP1-related disease. This variant is not present in population databases (ExAC no frequency).

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