Submissions for variant NM_007294.3(BRCA1):c.135-?_441+?del

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000074566	SCV000108651	pathogenic	Familial cancer of breast		criteria provided, single submitter	clinical testing	whole or partial BRCA1 and BRCA2 large deletions and duplications have been reported in approximately 6-10% of individuals with BRCA-associated Hereditary Breast and Ovarian Cancer (Judkins 2012)
Invitae	RCV000240170	SCV000299102	pathogenic	Hereditary breast ovarian cancer syndrome	2017-01-03	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 4-6 of the BRCA1 gene. This deletion is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Deletion of exons 4-6 has been reported in individuals and families with breast and/or ovarian cancer (PMID: 18546071, 16715518, 16772120, Invitae database). Deletion of exons 4-6 is also known as deletion of exons 5-7 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	RCV000258452	SCV000325035	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	RCV000240170	SCV000590973	pathogenic	Hereditary breast ovarian cancer syndrome	2013-08-26	criteria provided, single submitter	clinical testing