Submissions for variant NM_007294.4(BRCA1):c.1483_1498del (p.Glu495fs)

dbSNP: rs397508872

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)	RCV000241424	SCV000299608	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2016-09-08	reviewed by expert panel	curation	Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000241424	SCV000325079	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-10-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000496858	SCV001587046	pathogenic	Hereditary breast ovarian cancer syndrome	2021-09-10	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 54266). This variant is also known as 1599del16 (ter497). This premature translational stop signal has been observed in individual(s) with clinical features of hereditary breast and ovarian cancer syndrome (PMID: 9150149). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu495Ilefs*3) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496858	SCV000587139	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research