ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.33G>A (p.Leu11=) (rs535411352)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000588502 SCV000261244 likely benign not provided 2019-02-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368542 SCV000365643 likely benign Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000421015 SCV000517093 likely benign not specified 2018-01-20 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000421015 SCV000600222 likely benign not specified 2017-07-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575174 SCV000668297 likely benign Hereditary cancer-predisposing syndrome 2015-08-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000575174 SCV000682884 likely benign Hereditary cancer-predisposing syndrome 2017-03-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000421015 SCV000698315 likely benign not specified 2017-11-24 criteria provided, single submitter clinical testing Variant summary: The BMPR1A c.33G>A (p.Leu11Leu) 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 alter ESE binding. However, these predictions have yet to be confirmed by functional studies. This variant was found in 3/246110 control chromosomes (gnomAD) at a frequency of 0.0000122, which is approximately 6 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. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as likely benign.
PreventionGenetics,PreventionGenetics RCV000588502 SCV000806603 likely benign not provided 2017-07-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588502 SCV000888825 likely benign not provided 2017-07-21 criteria provided, single submitter clinical testing

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