ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.248-2A>G

dbSNP: rs1085307193
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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 RCV001376550 SCV000939575 likely pathogenic Primary pulmonary hypertension 2019-05-02 criteria provided, single submitter clinical testing This variant has been observed in an individual affected with pulmonary arterial hypertension (PMID: 19555857). ClinVar contains an entry for this variant (Variation ID: 425737). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 2 of the BMPR2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Rare Disease Genomics Group, St George's University of London RCV000488795 SCV000576011 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

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