ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.405G>A (p.Pro135=)

gnomAD frequency: 0.00001  dbSNP: rs768046980
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469946 SCV000553963 likely benign BAP1-related tumor predisposition syndrome 2024-01-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000582176 SCV000688029 likely benign Hereditary cancer-predisposing syndrome 2017-03-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582176 SCV001183431 likely benign Hereditary cancer-predisposing syndrome 2018-08-31 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477998 SCV004221491 likely benign not provided 2023-03-16 criteria provided, single submitter clinical testing

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