Submissions for variant NM_004656.4(BAP1):c.1320G>A (p.Leu440=)

gnomAD frequency: 0.00056  dbSNP: rs77722216

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079906	SCV000563753	benign	BAP1-related tumor predisposition syndrome	2025-02-02	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000580785	SCV000682567	likely benign	Hereditary cancer-predisposing syndrome	2016-03-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000831595	SCV000973348	likely benign	not provided	2020-09-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000580785	SCV001171259	likely benign	Hereditary cancer-predisposing syndrome	2015-07-01	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.
Sema4, Sema4	RCV000580785	SCV002537253	benign	Hereditary cancer-predisposing syndrome	2021-12-15	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000831595	SCV004220421	benign	not provided	2022-09-10	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV001079906	SCV005404638	benign	BAP1-related tumor predisposition syndrome	2024-07-16	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.