ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1276+3A>G

dbSNP: rs1085307329
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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 RCV005090991 SCV005834174 uncertain significance Primary pulmonary hypertension 2024-11-12 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the BMPR2 gene. It does not directly change the encoded amino acid sequence of the BMPR2 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with pulmonary hypertension (PMID: 16429395). ClinVar contains an entry for this variant (Variation ID: 425912). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant disrupts the c.1276+3A nucleotide in BMPR2. Other variant(s) that disrupt this nucleotide have been observed in individuals with BMPR2-related conditions (PMID: 20534176), which suggests that this may be a clinically significant nucleotide. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Rare Disease Genomics Group, St George's University of London RCV000488854 SCV000576206 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

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