ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1395G>C (p.Pro465=) (rs55845713)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162390 SCV000212710 likely benign Hereditary cancer-predisposing syndrome 2014-09-10 criteria provided, single submitter clinical testing
Color RCV000162390 SCV000682863 likely benign Hereditary cancer-predisposing syndrome 2016-03-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000438013 SCV000706959 likely benign not specified 2017-04-10 criteria provided, single submitter clinical testing
GeneDx RCV000438013 SCV000515695 benign not specified 2015-05-19 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.
Genetic Services Laboratory, University of Chicago RCV000438013 SCV000593651 likely benign not specified 2017-04-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587740 SCV000698312 benign not provided 2016-07-25 criteria provided, single submitter clinical testing Variant summary: The BMPR1A c.1395G>C (p.Pro465Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 4/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 38/121402 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0034595 (36/10406). This frequency is about 1730 times the estimated maximal expected allele frequency of a pathogenic BMPR1A variant (0.000002), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories have classified this variant as likely benign/benign. The variant of interest has not been reported in affected individuals via publications. Taken together, this variant is classified as Benign.
Invitae RCV000206660 SCV000260512 benign Juvenile polyposis syndrome 2017-12-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000438013 SCV000600218 likely benign not specified 2017-01-20 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.