Submissions for variant NM_007294.4(BRCA1):c.2612_2613insT (p.Phe872fs)

dbSNP: rs80357948

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000111904	SCV000299796	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	RCV000111904	SCV000325408	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2015-10-02	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000758801	SCV000887649	pathogenic	not provided	2017-10-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426604	SCV002740736	pathogenic	Hereditary cancer-predisposing syndrome	2020-09-10	criteria provided, single submitter	clinical testing	The c.2612_2613insT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from an insertion of one nucleotide at position 2612, causing a translational frameshift with a predicted alternate stop codon (p.F872Vfs*31). This alteration has been seen in multiple patients with personal or family histories of breast and/or ovarian cancer (Gayther SA et al. Am. J. Hum. Genet. 1999 Oct;65(4):1021-9; Castéra L et al. Eur. J. Hum. Genet. 2014 Nov;22(11):1305-13). Of note, this alteration is also designated as 2731insT in some literature. 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.
Breast Cancer Information Core (BIC) (BRCA1)	RCV000111904	SCV000144493	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 1	2014-01-07	no assertion criteria provided	clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496494	SCV000587238	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research