ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8633-965C>T

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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 RCV004524941 SCV005031066 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-28 criteria provided, single submitter clinical testing The c.8633-965C>T intronic variant results from a C to T substitution 965 nucleotides upstream from coding exon 20 in the BRCA2 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site; however, direct evidence is insufficient at this time (Ambry internal data). Based on the available evidence, the clinical significance of this alteration remains unclear.

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