ClinVar Miner

Submissions for variant NC_000013.10:g.(?_32945087)_(32945243_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000708224 SCV000837334 likely pathogenic Hereditary breast ovarian cancer syndrome 2018-03-07 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exon 20 of the BRCA2 gene. While the exact position of the duplicated exon cannot be determined from this data, sub-genic duplications are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. Similar duplications of exon 20 have been reported in families affected with breast cancer (PMID: 17063271). ClinVar contains an entry for this variant (Variation ID: 267699). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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