ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter)

dbSNP: rs1085307154
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002230968 SCV000629980 pathogenic Primary pulmonary hypertension 2023-07-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 425685). This premature translational stop signal has been observed in individual(s) with pulmonary arterial hypertension (PMID: 18356561, 21801371, 26387786). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp16*) in the BMPR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395).
Genetics and Molecular Pathology, SA Pathology RCV000488825 SCV002556829 pathogenic Pulmonary hypertension, primary, 1 2022-03-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003419820 SCV004115800 pathogenic BMPR2-related condition 2024-02-07 criteria provided, single submitter clinical testing The BMPR2 c.48G>A variant is predicted to result in premature protein termination (p.Trp16*). This variant has been reported in multiple individuals with idiopathic or hereditary pulmonary arterial hypertension (Sztrymf et al. 2008. PubMed ID: 18356561; Dewachter et al. 2009. PubMed ID: 19324947; Liu et al. 2011. PubMed ID: 21737554; Pfarr et al. 2011. PubMed ID: 21801371; Machado et al. 2015. PubMed ID: 26387786; Table S1, Eichstaedt et al. 2022. PubMed ID: 35346192). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in BMPR2 are expected to be pathogenic. This variant is interpreted as pathogenic.
Rare Disease Genomics Group, St George's University of London RCV000488825 SCV000575957 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003644 SCV001162087 pathogenic Pulmonary arterial hypertension no assertion criteria provided research

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