Submissions for variant NM_000059.4(BRCA2):c.5702_5703del (p.Glu1901fs)

dbSNP: rs80359528

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000113463	SCV000300918	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	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	RCV000113463	SCV000327268	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2015-10-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000478165	SCV000566646	pathogenic	not provided	2022-07-12	criteria provided, single submitter	clinical testing	Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Has not been previously published as pathogenic or benign to our knowledge; Also known as 5930_5931delAG; This variant is associated with the following publications: (PMID: 10923033)
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000478165	SCV000600658	pathogenic	not provided	2016-11-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000573533	SCV000661156	pathogenic	Hereditary cancer-predisposing syndrome	2023-06-16	criteria provided, single submitter	clinical testing	The c.5702_5703delAG pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of two nucleotides at nucleotide positions 5702 to 5703, causing a translational frameshift with a predicted alternate stop codon (p.E1901Gfs*5). 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000496737	SCV001202465	pathogenic	Hereditary breast ovarian cancer syndrome	2023-09-08	criteria provided, single submitter	clinical testing	This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 51911). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu1901Glyfs*5) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584).
Baylor Genetics	RCV003473363	SCV004212801	pathogenic	Familial cancer of breast	2022-05-13	criteria provided, single submitter	clinical testing
Breast Cancer Information Core (BIC) (BRCA2)	RCV000113463	SCV000146668	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2004-02-20	no assertion criteria provided	clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496737	SCV000587794	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research