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

gnomAD frequency: 0.00009  dbSNP: rs375950004

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000557160	SCV000651870	likely benign	BAP1-related tumor predisposition syndrome	2024-02-01	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: 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	2023-08-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003900221	SCV004714126	likely benign	BAP1-related condition	2021-12-30	criteria provided, single submitter	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).