Submissions for variant NM_007294.4(BRCA1):c.2637del (p.Glu880fs)

dbSNP: rs886040056

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)	RCV000257315	SCV000323490	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	RCV000257315	SCV000325413	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-10-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004601147	SCV005100536	pathogenic	Hereditary cancer-predisposing syndrome	2024-05-02	criteria provided, single submitter	clinical testing	The c.2637delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2637, causing a translational frameshift with a predicted alternate stop codon (p.E880Rfs*13). This variant was identified in 1 of 1019 Italian women affected with breast cancer with BRCA1/2 pathogenic variants (Figlioli G et al. Cancers (Basel), 2021 Jan;13:). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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	RCV000496514	SCV000587241	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research