ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.83G>A (p.Ser28Asn) (rs371904636)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196492 SCV000254801 uncertain significance Juvenile polyposis syndrome 2018-10-11 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 28 of the BMPR1A protein (p.Ser28Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BMPR1A-related disease. ClinVar contains an entry for this variant (Variation ID: 216584). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Counsyl RCV000196492 SCV000489163 uncertain significance Juvenile polyposis syndrome 2016-08-29 criteria provided, single submitter clinical testing
GeneDx RCV000483899 SCV000571096 uncertain significance not provided 2018-01-22 criteria provided, single submitter clinical testing This variant is denoted BMPR1A c.83G>A at the cDNA level, p.Ser28Asn (S28N) at the protein level, and results in the change of a Serine to an Asparagine (AGT>AAT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BMPR1A Ser28Asn was not observed at a significant allele frequency in large population cohorts (Lek 2016). BMPR1A Ser28Asn is located in the MH1 domain (Howe 2004). In-silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether BMPR1A Ser28Asn is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000568404 SCV000668333 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000568404 SCV000682919 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-14 criteria provided, single submitter clinical testing

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.