ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.1872G>A (p.Gly624=)

gnomAD frequency: 0.00009  dbSNP: rs375950004
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000557160 SCV000651870 likely benign BAP1-related tumor predisposition syndrome 2025-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565170 SCV000672735 likely benign Hereditary cancer-predisposing syndrome 2017-05-31 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 RCV000565170 SCV000687971 likely benign Hereditary cancer-predisposing syndrome 2016-06-27 criteria provided, single submitter clinical testing
GeneDx RCV001584322 SCV001820958 likely benign not provided 2021-05-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000565170 SCV002537270 benign Hereditary cancer-predisposing syndrome 2021-11-19 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268159 SCV002550687 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000557160 SCV005404653 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.
PreventionGenetics, part of Exact Sciences RCV003900221 SCV004714126 likely benign BAP1-related disorder 2021-12-30 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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