ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.919-3T>C

dbSNP: rs2077994124
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001343393 SCV001537371 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2021-09-01 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the BRIP1 gene. It does not directly change the encoded amino acid sequence of the BRIP1 protein. 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 affected with BRIP1-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Ambry Genetics RCV002447412 SCV002683293 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-17 criteria provided, single submitter clinical testing The c.919-3T>C intronic variant results from a T to C substitution 3 nucleotides upstream from coding exon 7 in the BRIP1 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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