ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.1020C>T (p.Gly340=)

dbSNP: rs1553645312
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000583978 SCV000687890 likely benign Hereditary cancer-predisposing syndrome 2017-01-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000796169 SCV000935668 likely benign BAP1-related tumor predisposition syndrome 2024-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000583978 SCV001169827 likely benign Hereditary cancer-predisposing syndrome 2015-06-24 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.
GeneDx RCV001764702 SCV002008479 uncertain significance not provided 2019-06-06 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 30395583)
Myriad Genetics, Inc. RCV000796169 SCV005406103 benign BAP1-related tumor predisposition syndrome 2024-07-15 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.