Submissions for variant NM_007294.3(BRCA1):c.442-?_547+?(2)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000074595	SCV000108680	uncertain significance	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)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000464522	SCV000563927	likely pathogenic	Hereditary breast ovarian cancer syndrome	2016-06-04	criteria provided, single submitter	clinical testing	This variant is a gross duplication of the genomic region encompassing exon 7 of the BRCA1 gene. While the exact position of the duplicated exon cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). In summary, sub-genic duplications are generally in tandem (PMID: 25640679), and may result in an absent or disrupted protein. However, the exact location of this duplication has not been confirmed. Therefore, it has been classified as Likely Pathogenic.