ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.231-9C>T (rs763313220)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427367 SCV000523992 likely benign not specified 2018-02-20 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.
Color RCV000581566 SCV000688257 likely benign Hereditary cancer-predisposing syndrome 2017-08-02 criteria provided, single submitter clinical testing
Invitae RCV000635502 SCV000756916 likely benign Juvenile polyposis syndrome 2017-12-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000427367 SCV000916691 uncertain significance not specified 2017-11-09 criteria provided, single submitter clinical testing Variant summary: The BMPR1A c.231-9C>T variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 245258 control chromosomes. This variant has been reported in one patient with breast cancer without strong evidence supporting causality. In addition, one clinical diagnostic laboratory classified this variant as likely benign without providing evidence. Taken together, this variant is classified as VUS.

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