ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7804_7805+9del

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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 RCV002409921 SCV002669155 likely pathogenic Hereditary cancer-predisposing syndrome 2020-02-28 criteria provided, single submitter clinical testing The c.7804_7805+9del11 intronic variant, which spans from coding exon 15 to intron 15 of the BRCA2 gene, results from a deletion of 11 nucleotides at positions c.7804 to c.7805+9 causing a disruption of the canonical donor splice site. This nucleotide region is not well conserved in available vertebrate species. Using the BDGP and Human Splicing Finder (HSF) splice site prediction tools, this alteration is predicted to abolish the native splice donor site; however, direct evidence is unavailable (Desmet FO et al. Nucleic Acids Res. 2009 May;37:e67). Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

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