ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1097del (p.Pro366fs) (rs1085307296)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493580 SCV000582375 pathogenic not provided 2015-09-01 criteria provided, single submitter clinical testing Although the c.1097delC deletion in the BMPR2 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Proline 366, changing it to a Glutamine, and creating a premature stop codon at position 9 of the new reading frame, denoted p.Pro366GlnfsX9. This deletion 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 et al., 2014). Furthermore, the c.1097delC deletion was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, c.1097delC in the BMPR2 gene is interpreted as a pathogenic variant.
Medical & Molecular Genetics Group,University of Lincoln RCV000488847 SCV000576163 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.