ClinVar Miner

Submissions for variant NC_000013.11:g.(?_32370382)_(32371120_?)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 RCV000708532 SCV000837642 pathogenic Hereditary breast ovarian cancer syndrome 2022-09-03 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 19-20 of the BRCA2 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). A similar copy number variant has been observed in individual(s) with hereditary breast and/or ovarian cancer and prostate cancer (PMID: 17688236, 18445692, 25678442, 28595730). For these reasons, this variant has been classified as Pathogenic.

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