ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7436-?_7805+?del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258444 SCV000327657 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000467351 SCV000563933 pathogenic Hereditary breast ovarian cancer syndrome 2016-12-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 15-16 of the BRCA2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic. Deletions of exons 15-16 have been reported in the literature in individuals affected with ovarian cancer (PMID: 21324516, 19894111), two related individuals with breast cancer (PMID: 17063271), and an individual with breast cancer, gastric cancer, and hepatocellular cancer (PMID: 23099436). For these reasons, this variant has been classified as Pathogenic.

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