ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1972C>A (p.Arg658=)

dbSNP: 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 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.
Color Diagnostics, LLC DBA Color Health RCV000572359 SCV000689302 likely benign Hereditary cancer-predisposing syndrome 2017-11-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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 Familial cancer of breast; Fanconi anemia complementation group J 2023-06-20 criteria provided, single submitter clinical testing

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