Submissions for variant NM_007294.3(BRCA1):c.415C>T (p.Gln139Ter) (rs80357372)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000112573	SCV000299454	pathogenic	Breast-ovarian cancer, familial 1	2016-09-08	reviewed by expert panel	curation	Variant allele predicted to encode a truncated non-functional protein.
Invitae	RCV000048460	SCV000076473	pathogenic	Hereditary breast and ovarian cancer syndrome	2017-07-27	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln139*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with breast cancer (PMID: 26976419). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000112573	SCV000325868	pathogenic	Breast-ovarian cancer, familial 1	2015-10-02	criteria provided, single submitter	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000112573	SCV000145404	pathogenic	Breast-ovarian cancer, familial 1	2003-12-23	no assertion criteria provided	clinical testing