ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.713G>A (p.Arg238Gln) (rs191742018)

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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 RCV000129721 SCV000184525 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000236672 SCV000254799 likely benign not provided 2019-02-27 criteria provided, single submitter clinical testing
GeneDx RCV000236672 SCV000293229 uncertain significance not provided 2018-07-31 criteria provided, single submitter clinical testing This variant is denoted BMPR1A c.713G>A at the cDNA level, p.Arg238Gln (R238Q) at the protein level, and results in the change of an Arginine to a Glutamine (CGG>CAG). This variant has not, to our knowledge, been published in the literature as a germline variant; however, it has been reported as a somatic variant in a Ewing's sarcoma sample (Crompton 2014). BMPR1A Arg238Gln was observed at an allele frequency of 0.12% (22/18,862) in individuals of East Asian ancestry in large population cohorts (Lek 2016). This variant is located in the protein kinase domain (UniProt). In-silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether BMPR1A Arg238Gln is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Color RCV000129721 SCV000682912 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-15 criteria provided, single submitter clinical testing
Counsyl RCV000197526 SCV000786302 uncertain significance Juvenile polyposis syndrome 2018-04-05 criteria provided, single submitter clinical testing

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