Submissions for variant NM_004656.4(BAP1):c.2189G>A (p.Ter730=)

dbSNP: rs771713346

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000774720	SCV000908659	likely benign	Hereditary cancer-predisposing syndrome	2016-12-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000818606	SCV000959228	likely benign	BAP1-related tumor predisposition syndrome	2024-03-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000774720	SCV002730174	likely benign	Hereditary cancer-predisposing syndrome	2020-06-22	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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003493727	SCV004243158	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000818606	SCV005407566	benign	BAP1-related tumor predisposition syndrome	2024-09-25	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.