ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.529G>A (p.Gly177Arg)

dbSNP: rs1574486033
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811584 SCV001157949 uncertain significance not provided 2021-11-14 criteria provided, single submitter clinical testing The BMPR2 c.529G>A; p.Gly177Arg variant (rs1574486033) is reported in the literature in an individual affected with pulmonary arterial hypertension (Zhu 2019). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant occurs at the last nucleotide in BMPR2 exon 4, and computational algorithms (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical donor splice site. However, mRNA studies would be required to confirm an effect on splicing. Given the lack of clinical and functional data, the significance of the c.529G>A; p.Gly177Arg variant is uncertain at this time. References: Zhu N et al. Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension. Genome Med. 2019 Nov 14;11(1):69. PMID: 31727138.
Wendy Chung Laboratory, Columbia University Medical Center RCV001823930 SCV002073590 not provided Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension no assertion provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.