ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.-93A>G

gnomAD frequency: 0.00031  dbSNP: rs147936167
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clingen Pulmonary Hypertension Variant Curation Expert Panel, ClinGen RCV003150164 SCV005043322 likely benign Pulmonary arterial hypertension 2024-04-30 reviewed by expert panel curation The BMPR2 NM_001204.7(BMPR2):c.-93A>G variant is a 5' UTR variant. The highest population minor allele frequency in gnomAD v2.1.1 controls is 0.006608 (6/908 alleles) in the East Asian population, which is higher than the ClinGen Pulmonary Hypertension VCEP threshold of >0.1% for BS1, and therefore meets this criterion (BS1). No functional data was available for review and multiple lines of computational evidence suggest no impact on the gene (BP4). No other criteria were met. In summary, the variant meets the criteria to be classified as likely benign for pulmonary arterial hypertension based on the ACMG/AMP criteria applied, as specified by the ClinGen Pulmonary Hypertension VCEP: BS1, BP4 [VCEP specification version 1.1, 1/18/2024].
Illumina Laboratory Services, Illumina RCV000294166 SCV000426381 benign Pulmonary hypertension, primary, 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Institute of Human Genetics, University of Wuerzburg RCV003150164 SCV003837589 uncertain significance Pulmonary arterial hypertension no assertion criteria provided clinical testing

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