ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.186dup (p.Gly63fs)

dbSNP: rs863223423
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
GeneDx RCV000198060 SCV000249646 pathogenic not provided 2015-04-24 criteria provided, single submitter clinical testing Although the c.186dupA pathogenic variant in the BMPR2 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Glycine 63, changing it to an Arginine, and creating a premature stop codon at position 2 of the new reading frame, denoted p.Gly63ArgfsX2. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the BMPR2 gene have been reported in HGMD in association with PAH (Stenson P et al., 2014). Furthermore, the c.186dupA variant has not been observed in approximately 6,500 individuals of European and African American background in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In summary, c.186dupA in the BMPR2 gene is interpreted as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001386215 SCV001586354 pathogenic Primary pulmonary hypertension 2023-04-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 212814). This variant has not been reported in the literature in individuals affected with BMPR2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly63Argfs*2) in the BMPR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395).
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine RCV002285150 SCV002575054 pathogenic Pulmonary arterial hypertension 2022-09-26 no assertion criteria provided clinical testing

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.