ClinVar Miner

Submissions for variant NM_004656.3(BAP1):c.341G>A (p.Arg114His) (rs773494626)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571205 SCV000672742 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000571205 SCV000682621 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397693 SCV000445484 likely benign Tumor susceptibility linked to germline BAP1 mutations 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000397693 SCV000553968 uncertain significance Tumor susceptibility linked to germline BAP1 mutations 2018-05-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 114 of the BAP1 protein (p.Arg114His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs773494626, ExAC no frequency). This variant has been reported in an individual affected with melanoma (PMID: 28062663). ClinVar contains an entry for this variant (Variation ID: 346125). An experimental study has shown that this missense change does not affect enzymatic activity of BAP1 protein in deubiquitinase activity assays (PMID: 28062663). 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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