Submissions for variant NM_007294.3(BRCA1):c.81-?_134+?del

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000210507	SCV000266790	pathogenic	Hereditary breast ovarian cancer syndrome	2017-01-18	criteria provided, single submitter	clinical testing	This sequence change is a gross deletion of the genomic region encompassing exon 3 of the BRCA1 gene. This deletion extends to both edges of the assayed region for this exon, and although the 5' and 3' boundaries of this event are in the 2nd and 3rd introns, respectively, the exact breakpoints are not known. Deletion of exon 3 maintains the reading frame but is expected to create a premature stop signal at codon 27 (p.Cys27*) that would result in an absent or disrupted protein product. Gross deletions of exon 3 have been reported in individuals and families affected with breast and ovarian cancer (PMID: 10918394, 15863663, 16551709, 22473970, 24916180). For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000258285	SCV000326422	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-10-02	criteria provided, single submitter	clinical testing
Department of Pathology and Molecular Medicine, Queen's University	RCV000210507	SCV000588024	likely pathogenic	Hereditary breast ovarian cancer syndrome	2017-04-20	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000210507	SCV000590972	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-06	criteria provided, single submitter	clinical testing