Submissions for variant NM_007294.3(BRCA1):c.4987-?_5074+?del

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000074599	SCV000108684	pathogenic	Familial cancer of breast		criteria provided, single submitter	clinical testing	whole or partial BRCA1 and BRCA2 large deletions or duplications have been reported in approximately 6-10% of individuals with a BRCA-associated Hereditary Breast and Ovarian Cancer (Judkins 2012)
Invitae	RCV000168098	SCV000218754	pathogenic	Hereditary breast ovarian cancer syndrome	2016-11-20	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exon 16 of the BRCA1 gene. This is predicted to create a premature translational stop signal and is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic. Deletions of exon 16 have been reported in multiple families affected with hereditary breast and ovarian cancer (PMID: 16715518, 16551709, 10435598, 18431737). Exon 16 is also known as exon 17 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	RCV000258258	SCV000326087	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-10-02	criteria provided, single submitter	clinical testing