ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1972C>A (p.Arg658=) (rs786203170)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572359 SCV000666193 likely benign Hereditary cancer-predisposing syndrome 2015-10-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000572359 SCV000689302 likely benign Hereditary cancer-predisposing syndrome 2017-11-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589277 SCV000699681 uncertain significance not specified 2019-09-12 criteria provided, single submitter clinical testing Variant summary: BRIP1 c.1972C>A alters a conserved nucleotide resulting in a synonymous change. Several computational tools (via Alamut) predict that the variant could impact normal splicing: Four predict the variant strengthens a cryptic exonic 5' donor site. However, these predictions have yet to be confirmed by functional studies. Another in-silico tool for assessing the pathogenicity of synonymous variants, namely TraP (Transcript-inferred Pathogenicity, Gelfman_2017) predicts that this variant is Benign. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251344 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1972C>A in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating an impact on protein function have been reported. Two other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 (without evidence for independent evaluation) and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS- possibly benign.
Invitae RCV000912673 SCV001057788 likely benign not provided 2018-09-05 criteria provided, single submitter clinical testing

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