ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.961C>T (p.Leu321=) (rs377412651)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163921 SCV000214516 likely benign Hereditary cancer-predisposing syndrome 2014-10-31 criteria provided, single submitter clinical testing
Invitae RCV000586080 SCV000288404 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
GeneDx RCV000436587 SCV000512266 benign not specified 2015-04-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color RCV000163921 SCV000537479 likely benign Hereditary cancer-predisposing syndrome 2016-03-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586080 SCV000698328 benign not provided 2017-07-21 criteria provided, single submitter clinical testing Variant summary: The BMPR1A c.961C>T (p.Leu321Leu) variant involves the alteration of a conserved nucleotide causing a synonymous change and 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may create an ESE binding site. However, these predictions have yet to be confirmed by functional studies. This variant was found in 55/276926 control chromosomes at a frequency of 0.0001986, which is approximately 99 times the estimated maximal expected allele frequency of a pathogenic BMPR1A variant (0.000002), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. Taken together, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000586080 SCV000885063 likely benign not provided 2018-01-24 criteria provided, single submitter clinical testing The BMPR1A c.961C>T; p.Leu321Leu variant (rs377412651), to our knowledge, is not reported in the medical literature but is reported as benign or likely benign in ClinVar (Variation ID: 184634). This variant is observed in the general population with an overall allele frequency of 0.02% (55/276926 alleles) in the Genome Aggregation Database. This is a synonymous change and computational algorithms do not predict this variant to impact splicing (Alamut v.2.10). Based on available information, this variant is considered likely benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586080 SCV000887616 benign not provided 2018-06-18 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.