Submissions for variant NM_007294.4(BRCA1):c.4482_4483del (p.Arg1495fs)

dbSNP: rs80357854

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)	RCV000031176	SCV000300126	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	RCV000031176	SCV000325972	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-10-02	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000580694	SCV000683185	pathogenic	Hereditary cancer-predisposing syndrome	2021-03-30	criteria provided, single submitter	clinical testing	This variant deletes two nucleotides in exon 13 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, functional studies have not been reported for this variant. This variant has been reported in an individual affected with breast cancer (PMID: 9667259). 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.
Sharing Clinical Reports Project (SCRP)	RCV000031176	SCV000053776	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2008-10-20	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000031176	SCV000145094	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	1997-02-15	no assertion criteria provided	clinical testing