ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6841+5G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002362070 SCV002664768 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-04 criteria provided, single submitter clinical testing The c.6841+5G>C intronic variant results from a G to C substitution 5 nucleotides after coding exon 10 in the BRCA2 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site and may result in the creation or strengthening of a novel 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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