ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.355C>T (p.Arg119Cys) (rs587782494)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757030 SCV000885062 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing The BMPR1A c.355C>T; p.Arg119Cys variant (rs587782494) has been described in at least one individual with juvenile polyposis syndrome (Aretz 2007). It is reported as likely pathogenic by one laboratory in ClinVar (Variation ID: 142484) and is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The arginine at codon 119 is moderately conserved but computational algorithms predict conflicting effects of this variant on protein structure/function (SIFT: tolerated, PolyPhen-2: damaging). Due to limited information regarding this variant, its clinical significance cannot be determined with certainty. References: Aretz S et al. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet. 2007 Nov;44(11):702-9.
Ambry Genetics RCV000131622 SCV000186643 likely pathogenic Hereditary cancer-predisposing syndrome 2017-06-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000805939 SCV000945914 uncertain significance Juvenile polyposis syndrome 2018-10-09 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 119 of the BMPR1A protein (p.Arg119Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with juvenile polyps (PMID: 17873119). ClinVar contains an entry for this variant (Variation ID: 142484). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.

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.