ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2379+5G>C

dbSNP: rs1567779316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709541 SCV000839369 uncertain significance Fanconi anemia complementation group J 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442544 SCV002735086 uncertain significance Hereditary cancer-predisposing syndrome 2020-06-12 criteria provided, single submitter clinical testing The c.2379+5G>C intronic variant results from a G to C substitution 5 nucleotides after coding exon 15 in the BRIP1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. RNA studies have demonstrated that this alteration results in an incomplete splice defect; the clinical impact of this abnormal splicing is unknown at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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