ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.(6841+1_6842-1)_(7007+1_7008-1)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000197894 SCV000253754 pathogenic Hereditary breast ovarian cancer syndrome 2015-01-14 criteria provided, single submitter clinical testing This sequence change is a gross deletion of the genomic region encompassing exons 12-13 of the BRCA2 gene. This deletion is expected to cause a frameshift at codon 2281, creating a premature translational stop signal (p.Gly2281Alafs*31) that is expected to result in an absent or disrupted protein product. This deletion extends to both edges of the assayed region, and the 5' and 3' boundaries of this event are not known. Deletions of exons 12-13 have been reported in the literature in individuals affected with breast cancer (PMID: 15548676, 11284040, 16950820). For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258348 SCV000327533 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2015-10-02 criteria provided, single submitter clinical testing

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