ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.651C>T (p.Ala217=)

gnomAD frequency: 0.00016  dbSNP: rs202170860
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476146 SCV000563752 benign BAP1-related tumor predisposition syndrome 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563135 SCV000664694 likely benign Hereditary cancer-predisposing syndrome 2015-07-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Color Diagnostics, LLC DBA Color Health RCV000563135 SCV000682636 benign Hereditary cancer-predisposing syndrome 2016-07-25 criteria provided, single submitter clinical testing
GeneDx RCV001547523 SCV001767255 likely benign not provided 2019-12-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000563135 SCV002537290 likely benign Hereditary cancer-predisposing syndrome 2021-11-11 criteria provided, single submitter curation

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