Submissions for variant NM_004656.4(BAP1):c.1413T>G (p.Ala471=)

gnomAD frequency: 0.01973  dbSNP: rs34736117

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000299879	SCV000445468	benign	BAP1-related tumor predisposition syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000422693	SCV000521676	benign	not specified	2016-04-21	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000299879	SCV000563726	benign	BAP1-related tumor predisposition syndrome	2025-02-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000566867	SCV000664589	benign	Hereditary cancer-predisposing syndrome	2015-06-01	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000566867	SCV000682574	benign	Hereditary cancer-predisposing syndrome	2016-03-09	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003656111	SCV001157040	benign	not provided	2024-11-05	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000422693	SCV002046984	benign	not specified	2021-05-05	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000422693	SCV002550754	benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316494	SCV004016325	benign	Melanoma, uveal, susceptibility to, 2	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV003656111	SCV005306446	benign	not provided		criteria provided, single submitter	not provided
Myriad Genetics, Inc.	RCV000299879	SCV005404612	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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000299879	SCV005881107	benign	BAP1-related tumor predisposition syndrome	2025-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000422693	SCV001807339	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000422693	SCV001958115	benign	not specified		no assertion criteria provided	clinical testing