ClinVar Miner

Submissions for variant NC_000013.10:g.(?_32899736)_(32913272_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529841 SCV000635096 pathogenic Hereditary breast ovarian cancer syndrome 2024-01-24 criteria provided, single submitter clinical testing This variant is a tandem duplication of the genomic region encompassing exons 5-10 and part of exon 11 (c.425+415_4780dup) of the BRCA2 gene, with a 11 bp insertion between exon 11 and intron 4 (GATCGCAGTGA). This event is expected to create a premature translational stop signal and to result in an absent or disrupted protein product. Similar duplications have been observed in individuals affected with breast and/or ovarian cancer (PMID: 24825132, 26687385, Invitae). For these reasons, this variant has been classified as Pathogenic.

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