Submissions for variant NM_000059.4(BRCA2):c.3295del (p.Ser1099fs)

dbSNP: rs80359383

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000241408	SCV000300616	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.
Counsyl	RCV000241408	SCV000489680	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2016-11-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002450760	SCV002611693	pathogenic	Hereditary cancer-predisposing syndrome	2022-06-09	criteria provided, single submitter	clinical testing	The c.3295delT pathogenic mutation, located in coding exon 10 of the BRCA2 gene, results from a deletion of one nucleotide at nucleotide position 3295, causing a translational frameshift with a predicted alternate stop codon (p.S1099Qfs*5). This mutation has been reported in multiple breast and/or ovarian cancer cohorts (Zhang S et al. Gynecol Oncol, 2011 May;121:353-7; Li YT et al. Eur J Med Res, 2014 Jun;19:35; Shi T et al. Int J Cancer, 2017 05;140:2051-2059). Of note, this alteration is also designated as c.3294delT and 3522delT in published 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) (BRCA2)	RCV000241408	SCV000146208	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	1999-12-30	no assertion criteria provided	clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496234	SCV000587669	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research