Submissions for variant NM_007294.4(BRCA1):c.5042del (p.Thr1681fs)

dbSNP: rs886040265

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000257328	SCV000323828	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2016-10-18	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	RCV000257328	SCV000326117	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-10-02	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000758839	SCV000887709	pathogenic	not provided	2018-01-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000496254	SCV001388137	pathogenic	Hereditary breast ovarian cancer syndrome	2019-07-02	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 266518). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr1681Metfs*9) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496254	SCV000587446	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research