ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.765A>G (p.Val255=)

gnomAD frequency: 0.00006  dbSNP: rs1222530223
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001414345 SCV001616478 likely benign BAP1-related tumor predisposition syndrome 2020-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388134 SCV002669409 likely benign Hereditary cancer-predisposing syndrome 2019-11-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV003432691 SCV004148102 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing BAP1: BP4, BP7
Color Diagnostics, LLC DBA Color Health RCV002388134 SCV004362584 likely benign Hereditary cancer-predisposing syndrome 2021-10-11 criteria provided, single submitter clinical testing

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