ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2492+5G>A (rs763222019)

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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 RCV000575007 SCV000666199 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000575007 SCV000684216 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-08 criteria provided, single submitter clinical testing
Counsyl RCV000662681 SCV000785390 uncertain significance Fanconi anemia, complementation group J; Neoplasm of ovary 2017-08-02 criteria provided, single submitter clinical testing
Invitae RCV000462370 SCV000547335 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-09-05 criteria provided, single submitter clinical testing This sequence change falls in intron 17 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 present in population databases (rs763222019, ExAC 0.002%). This variant has been observed in an individual affected with colorectal cancer (PMID: 28135145). ClinVar contains an entry for this variant (Variation ID: 407844). Nucleotide substitutions within 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 may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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