Submissions for variant NM_007294.4(BRCA1):c.886del (p.Arg296fs)

dbSNP: rs869320786

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)	RCV000210977	SCV000783288	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.
Michigan Medical Genetics Laboratories, University of Michigan	RCV000210977	SCV000267688	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2016-04-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000570759	SCV000668428	pathogenic	Hereditary cancer-predisposing syndrome	2016-07-01	criteria provided, single submitter	clinical testing	The c.886delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 886, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496715	SCV000587084	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research