ClinVar Miner

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

dbSNP: rs1085307296
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Total submissions: 3
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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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001386886 SCV001587284 pathogenic Primary pulmonary hypertension 2020-03-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). This variant has been observed in individual(s) with pulmonary arterial hypertension (PMID: 19555857). This variant is also known as c.1095delC, p.R365fsX8 in the literature. ClinVar contains an entry for this variant (Variation ID: 425871). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro366Glnfs*9) in the BMPR2 gene. It is expected to result in an absent or disrupted protein product.
Rare Disease Genomics Group, St George's University of London RCV000488847 SCV000576163 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

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