Submissions for variant NM_007294.4(BRCA1):c.2524G>T (p.Glu842Ter)

dbSNP: rs876658552

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)	RCV000256754	SCV000323472	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	RCV000256754	SCV000325384	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-10-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001015819	SCV001176695	pathogenic	Hereditary cancer-predisposing syndrome	2019-07-25	criteria provided, single submitter	clinical testing	The p.E842* pathogenic mutation (also known as c.2524G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 2524. This changes the amino acid from a glutamic acid to a stop codon within coding exon 9. This alteration was identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum. Mutat., 2018 05;39:593-620). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496436	SCV000587229	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research