ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7510_7617+184del

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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 RCV002393779 SCV002669043 likely pathogenic Hereditary cancer-predisposing syndrome 2019-01-31 criteria provided, single submitter clinical testing The c.7510_7617+184DEL292 alteration is a deletion of a portion of coding exon 14 of the BRCA2 gene and extending 184 nucleotides into intron 15. This results in the deletion of a total of 292 nucleotides including the last 108 nucleotides of coding exon 14. This deletion is likely to cause a disruption of normal RNA splicing; however, direct evidence is unavailable. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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