ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.1395G>C (p.Pro465=)

gnomAD frequency: 0.00089  dbSNP: rs55845713
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162390 SCV000212710 likely benign Hereditary cancer-predisposing syndrome 2014-09-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001081373 SCV000260512 benign Juvenile polyposis syndrome 2021-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000438013 SCV000515695 benign not specified 2015-05-19 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.
Genetic Services Laboratory,University of Chicago RCV000438013 SCV000593651 likely benign not specified 2017-04-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587740 SCV000600218 benign not provided 2018-10-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162390 SCV000682863 likely benign Hereditary cancer-predisposing syndrome 2016-03-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587740 SCV000698312 benign not provided 2016-07-25 criteria provided, single submitter clinical testing Variant summary: The BMPR1A c.1395G>C (p.Pro465Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 4/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 38/121402 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0034595 (36/10406). This frequency is about 1730 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 African origin. In addition, multiple clinical diagnostic laboratories have classified this variant as likely benign/benign. The variant of interest has not been reported in affected individuals via publications. Taken together, this variant is classified as Benign.
Eurofins NTD LLC (GA) RCV000438013 SCV000706959 likely benign not specified 2017-04-10 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000162390 SCV002528568 benign Hereditary cancer-predisposing syndrome 2020-12-02 criteria provided, single submitter curation

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