ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1277-2A>G

dbSNP: rs1574499954
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002549221 SCV003524891 pathogenic Primary pulmonary hypertension 2023-06-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 10 and introduces a premature termination codon (PMID: 28480048). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 812830). This variant is also known as IVS9-2A>G. Disruption of this splice site has been observed in individuals with pulmonary arterial hypertension (PMID: 28480048, 30578397). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 9 of the BMPR2 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product.
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003717 SCV001162160 likely pathogenic Pulmonary arterial hypertension no assertion criteria provided research

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