ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.676-6A>C (rs186999445)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123227 SCV000166533 likely benign Juvenile polyposis syndrome 2017-11-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259627 SCV000365647 likely benign Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000123227 SCV000488319 uncertain significance Juvenile polyposis syndrome 2016-02-25 criteria provided, single submitter clinical testing
GeneDx RCV000441358 SCV000518111 likely benign not specified 2017-08-24 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 RCV000580484 SCV000682907 likely benign Hereditary cancer-predisposing syndrome 2016-06-13 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587362 SCV000698320 benign not provided 2016-12-15 criteria provided, single submitter clinical testing Variant summary: The BMPR1A c.676-6A>C variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this substitution along with 5/5 splice prediction tools predicting the variant not to have an impact on normal splicing. This variant was found in 14/118044 control chromosomes, predominantly observed in the Latino subpopulation at a frequency of 0.0002616 (3/11468). This frequency greatly exceeds 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 Latino origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as benign.

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