ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8332-3C>A

dbSNP: rs587782093
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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 RCV000216925 SCV000274088 uncertain significance Hereditary cancer-predisposing syndrome 2020-06-19 criteria provided, single submitter clinical testing The c.8332-3C>A intronic variant results from a C to A substitution 3 nucleotides upstream from coding exon 18 in the BRCA2 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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