ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7806-?_8331+?del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205620 SCV000260596 pathogenic Hereditary breast ovarian cancer syndrome 2015-09-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 17-18 of the BRCA2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Truncating variants in BRCA2 are known to be pathogenic. This particular deletion has been reported in an individual affected with breast cancer (PMID: 16199546). For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258282 SCV000327736 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-10-02 criteria provided, single submitter clinical testing

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