ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2098-3T>C (rs1057520463)

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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 RCV000566904 SCV000668871 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000566904 SCV000684185 likely benign Hereditary cancer-predisposing syndrome 2015-09-03 criteria provided, single submitter clinical testing
GeneDx RCV000425736 SCV000515545 likely benign not specified 2016-02-29 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.
Invitae RCV000704176 SCV000833115 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-05-12 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the BRIP1 gene. It does not directly change the encoded amino acid sequence of the BRIP1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 379013). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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