ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.2580del (p.Asn861fs) (rs1085307395)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000488482 SCV000831772 pathogenic Primary pulmonary hypertension 2018-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn861Ilefs*11) in the BMPR2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with pulmonary arterial hypertension and has been found in unrelated individuals affected with this disease (PMID: 10903931, 10973254,  16717148). This variant is also known as c.2579delT and c.2579-2580delT in the literature. ClinVar contains an entry for this variant (Variation ID: 425996). Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000488482 SCV000029558 pathogenic Primary pulmonary hypertension 2000-09-01 no assertion criteria provided literature only
Medical & Molecular Genetics Group,University of Lincoln RCV000488482 SCV000576298 pathogenic Primary pulmonary hypertension no assertion criteria provided literature only

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.