ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.760C>T (p.Arg254Cys) (rs587782578)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131806 SCV000186861 likely benign Hereditary cancer-predisposing syndrome 2017-06-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Structural Evidence,Other data supporting benign classification
Invitae RCV000484680 SCV000254800 likely benign not provided 2019-03-02 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000131806 SCV000266155 uncertain significance Hereditary cancer-predisposing syndrome 2015-11-20 criteria provided, single submitter clinical testing
Counsyl RCV000200056 SCV000488255 uncertain significance Juvenile polyposis syndrome 2016-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000484680 SCV000568872 uncertain significance not provided 2018-07-06 criteria provided, single submitter clinical testing This variant is denoted BMPR1A c.760C>T at the cDNA level, p.Arg254Cys (R254C) at the protein level, and results in the change of an Arginine to a Cysteine (CGT>TGT). This variant was observed in at least four individuals; two with breast cancer, one with colorectal cancer, and one undergoing multigene colorectal panel testing (Selkirk 2014, Tung 2015, Shirts 2016, Yurgelun 2017). BMPR1A Arg254Cys was observed at an allele frequency of 0.13% (13/9848) in individuals of Ashkenazi Jewish ancestry in large population cohorts (Lek 2016). This variant is located in protein kinase domain (UniProt). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether BMPR1A Arg254Cys is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000515265 SCV000611442 uncertain significance Juvenile polyposis syndrome; Hereditary mixed polyposis syndrome 2 2017-05-23 criteria provided, single submitter clinical testing
Color RCV000131806 SCV000682916 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-07 criteria provided, single submitter clinical testing

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