ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.1806G>A (p.Glu602=)

gnomAD frequency: 0.00002  dbSNP: rs759423683
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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 RCV000582391 SCV000687963 likely benign Hereditary cancer-predisposing syndrome 2017-02-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001467990 SCV001672025 likely benign BAP1-related tumor predisposition syndrome 2022-03-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000582391 SCV002713199 likely benign Hereditary cancer-predisposing syndrome 2021-01-04 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. RCV001467990 SCV005406338 benign BAP1-related tumor predisposition syndrome 2024-07-17 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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