Submissions for variant NM_007294.4(BRCA1):c.5320_5321del (p.Asn1774fs)

dbSNP: rs80357818

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)	RCV000112611	SCV000300239	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	RCV000112611	SCV000326263	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-10-02	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000774928	SCV000908983	pathogenic	Hereditary cancer-predisposing syndrome	2020-07-06	criteria provided, single submitter	clinical testing	This variant deletes 2 nucleotides in exon 20 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. This variant has been reported in an individual(s) affected with hereditary cancer in the literature (PMID 9145677, 29446198). 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	RCV000496631	SCV002194622	pathogenic	Hereditary breast ovarian cancer syndrome	2021-02-02	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Asn1774Hisfs*55) 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). This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with familial breast cancer (PMID: 9145677). This variant is also known as 5439delAA in the literature. ClinVar contains an entry for this variant (Variation ID: 55524).
Breast Cancer Information Core (BIC) (BRCA1)	RCV000112611	SCV000145452	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2004-02-20	no assertion criteria provided	clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496631	SCV000587493	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research