ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.1251-4A>G

gnomAD frequency: 0.00001  dbSNP: rs750343039
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186323 SCV001352712 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001481252 SCV001685591 likely benign BAP1-related tumor predisposition syndrome 2025-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001186323 SCV002670749 likely benign Hereditary cancer-predisposing syndrome 2024-06-14 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.
Myriad Genetics, Inc. RCV001481252 SCV005404864 likely benign BAP1-related tumor predisposition syndrome 2024-07-16 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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