ClinVar Miner

Submissions for variant NC_000013.11:g.(?_32330899)_(32331050_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001031463 SCV001194769 pathogenic Hereditary breast ovarian cancer syndrome 2019-10-15 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 9 of the BRCA2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Similar deletions of exon 9 have not been reported in the literature in individuals with BRCA2-related disease. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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