Submissions for variant NM_007294.4(BRCA1):c.179del (p.Gln60fs)

dbSNP: rs80357591

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000083173	SCV000299419	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.
Color Diagnostics, LLC DBA Color Health	RCV001804781	SCV002052158	pathogenic	Hereditary cancer-predisposing syndrome	2021-03-11	criteria provided, single submitter	clinical testing	This variant deletes 1 nucleotide in exon 4 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000496425	SCV004517277	pathogenic	Hereditary breast ovarian cancer syndrome	2022-12-06	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln60Argfs*9) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 54353). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency).
Sharing Clinical Reports Project (SCRP)	RCV000083173	SCV000115247	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2012-05-01	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000083173	SCV000144567	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2002-05-29	no assertion criteria provided	clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496425	SCV000587023	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research