ClinVar Miner

Submissions for variant NM_004656.4(BAP1):c.1947C>T (p.Cys649=)

dbSNP: rs1041287605
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704745 SCV000717688 likely benign not provided 2020-02-25 criteria provided, single submitter clinical testing
Invitae RCV000649813 SCV000771647 likely benign BAP1-related tumor predisposition syndrome 2023-09-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771743 SCV000904400 likely benign Hereditary cancer-predisposing syndrome 2018-02-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000771743 SCV002537275 likely benign Hereditary cancer-predisposing syndrome 2020-08-12 criteria provided, single submitter curation
Ambry Genetics RCV000771743 SCV002723993 likely benign Hereditary cancer-predisposing syndrome 2022-01-03 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001704745 SCV004221377 uncertain significance not provided 2022-11-04 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect BAP1 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.
CeGaT Center for Human Genetics Tuebingen RCV001704745 SCV004701184 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing BAP1: PM2:Supporting, BP4, BP7

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.