ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8755-5C>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 RCV002373567 SCV002685870 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-15 criteria provided, single submitter clinical testing The c.8755-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 21 in the BRCA2 gene. This nucleotide position is not well conserved in available vertebrate species. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however, direct evidence is insufficient 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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