ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.846T>G (p.Tyr282Ter) (rs863223419)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200009 SCV000249641 pathogenic not provided 2014-11-21 criteria provided, single submitter clinical testing p.Tyr282Ter (TAT>TAG): c.846 T>G in exon 6 of the BMPR2 gene (NM_001204.6). The Y282X mutation in the BMPR2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Y282X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Many other nonsense mutations in the BMPR2 gene have been reported in association with PAH. In summary, Y282X in the BMPR2 gene is interpreted as a disease-causing mutation. This variant was found in PAH-ARRHYTHMIA

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.