ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1017C>G (p.Ala339=)

gnomAD frequency: 0.00002  dbSNP: rs780130011
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213258 SCV000276409 likely benign Hereditary cancer-predisposing syndrome 2015-06-10 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001084619 SCV000632678 likely benign Juvenile polyposis syndrome 2024-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000679545 SCV000717697 likely benign not provided 2019-06-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679545 SCV000806593 likely benign not provided 2017-05-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000213258 SCV002528548 likely benign Hereditary cancer-predisposing syndrome 2021-04-03 criteria provided, single submitter curation
Color Diagnostics, LLC DBA Color Health RCV000213258 SCV004360074 likely benign Hereditary cancer-predisposing syndrome 2018-10-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001084619 SCV004835967 likely benign Juvenile polyposis syndrome 2023-12-01 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV001084619 SCV005404136 benign Juvenile polyposis syndrome 2024-08-06 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.