ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.350G>A (p.Cys117Tyr)

dbSNP: rs1085307215
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507538 SCV000602649 pathogenic not specified 2016-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001376585 SCV001393936 pathogenic Primary pulmonary hypertension 2023-07-16 criteria provided, single submitter clinical testing This variant disrupts the p.Cys117 amino acid residue in BMPR2. Other variant(s) that disrupt this residue have been observed in individuals with BMPR2-related conditions (PMID: 21737554, 29650961), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects BMPR2 function (PMID: 12045205). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 117 of the BMPR2 protein (p.Cys117Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with pulmonary artery hypertension (PMID: 11015450, 27884767, 29631995; Invitae). ClinVar contains an entry for this variant (Variation ID: 425766). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BMPR2 protein function.
Rare Disease Genomics Group, St George's University of London RCV000488729 SCV000576042 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only
Wendy Chung Laboratory, Columbia University Medical Center RCV001823911 SCV002073579 not provided Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension no assertion provided literature only

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