Submissions for variant NM_007294.4(BRCA1):c.5450_5451del (p.Glu1817fs)

dbSNP: rs397509286

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)	RCV000256624	SCV000323875	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2016-10-18	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	RCV000256624	SCV000326316	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-10-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000509919	SCV000607844	pathogenic	Hereditary cancer-predisposing syndrome	2017-11-01	criteria provided, single submitter	clinical testing	The c.5450_5451delAG pathogenic mutation, located in coding exon 21 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 5450 to 5451, causing a translational frameshift with a predicted alternate stop codon (p.E1817Gfs*12). This mutation was previously identified in a breast and/or ovarian cancer family (Kroiss R et al. Hum. Mutat. 2005 Dec;26(6):583-9). In addition to the clinical information presented in the literature, this alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496780	SCV000587511	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research