Submissions for variant NM_007294.4(BRCA1):c.1923dup (p.Asp642Ter)

dbSNP: rs878854935

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)	RCV000661079	SCV000783326	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2017-12-15	reviewed by expert panel	curation	Variant allele predicted to encode a truncated non-functional protein.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000234131	SCV000289753	pathogenic	Hereditary breast ovarian cancer syndrome	2018-10-24	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 not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 240777). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp642*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics	RCV000661079	SCV004215200	likely pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2023-02-22	criteria provided, single submitter	clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000234131	SCV000587168	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research