ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.682C>A (p.Arg228=) (rs587782682)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163613 SCV000214180 likely benign Hereditary cancer-predisposing syndrome 2015-02-06 criteria provided, single submitter clinical testing
Invitae RCV000588778 SCV000562765 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Color RCV000163613 SCV000682910 likely benign Hereditary cancer-predisposing syndrome 2016-07-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588778 SCV000698321 benign not provided 2017-07-06 criteria provided, single submitter clinical testing Variant summary: The BMPR1A c.682C>A (p.Arg228Arg) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 5/119922 control chromosomes, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.000076 (5/65736). This frequency is about 38 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 European (Non-Finnish) origin. 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; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
GeneDx RCV000605333 SCV000730483 benign not specified 2015-09-15 no assertion criteria provided 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.

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