ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.777G>A (p.Ala259=) (rs56108371)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212148 SCV000167201 benign not specified 2014-04-21 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.
Ambry Genetics RCV000123858 SCV000213015 likely benign Hereditary cancer-predisposing syndrome 2014-10-06 criteria provided, single submitter clinical testing
Invitae RCV000588975 SCV000260104 benign not provided 2019-03-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374068 SCV000365649 likely benign Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212148 SCV000600231 benign not specified 2016-12-02 criteria provided, single submitter clinical testing
Color RCV000123858 SCV000682918 benign Hereditary cancer-predisposing syndrome 2016-03-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588975 SCV000698327 benign not provided 2016-07-01 criteria provided, single submitter clinical testing Variant summary: The BMPR1A c.777G>A (p.Ala259Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant while 4/5 splice tools predict the variant not to have an impact on normal splicing. This variant was found in 113/120202 control chromosomes at a frequency of 0.0009401, which is approximately 470 times the estimated maximal expected allele frequency of a pathogenic BMPR1A variant (0.000002), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as Benign/Likely Benign. Taken together, this variant is classified as Benign.
PreventionGenetics,PreventionGenetics RCV000212148 SCV000806609 benign not specified 2017-01-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588975 SCV000887612 benign not provided 2016-12-02 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000123858 SCV000805225 likely benign Hereditary cancer-predisposing syndrome 2018-04-27 no assertion criteria provided clinical testing

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