Submissions for variant NM_007294.3(BRCA1):c.4186-?_5193+?del

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000200600	SCV000253907	pathogenic	Hereditary breast ovarian cancer syndrome	2015-06-24	criteria provided, single submitter	clinical testing	This sequence change is a gross deletion of the genomic region encompassing exons 12-18 of the BRCA1 gene. This deletion extends to both edges of the assayed region, and the 5' and 3' boundaries of this event are not known. It is predicted to lead to an in-frame deletion of 336 amino acids in the BRCA1 protein (p.Gln1396_Glu1731del), which includes the BRCT-N domain (PMID: 22843421). Gross deletions in BRCA1 are known to be pathogenic (PMID: 22544547). A deletion encompassing exons 12-18 has been reported in the literature in a patient affected with breast cancer (PMID: 20135348). This variant is also known as a deletion of exons 13-19 in the literature. For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000258431	SCV000325885	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-10-02	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000200600	SCV000590977	pathogenic	Hereditary breast ovarian cancer syndrome	2014-08-20	criteria provided, single submitter	clinical testing