ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2258-3A>G (rs786203561)

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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 RCV000166925 SCV000217744 uncertain significance Hereditary cancer-predisposing syndrome 2015-12-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000166925 SCV000689328 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-03 criteria provided, single submitter clinical testing
Invitae RCV000472114 SCV000547293 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-06-27 criteria provided, single submitter clinical testing This sequence change falls in intron 15 of the BRIP1 gene. It does not directly change the encoded amino acid sequence of the BRIP1 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 187218). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506334 SCV000600900 uncertain significance not specified 2017-03-25 criteria provided, single submitter clinical testing

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