ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5035del (p.Thr1679fs) (rs80359477)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164040 SCV000214646 pathogenic Hereditary cancer-predisposing syndrome 2018-01-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Breast Cancer Information Core (BIC) (BRCA2) RCV000031520 SCV000146523 pathogenic Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Color RCV000164040 SCV000905012 pathogenic Hereditary cancer-predisposing syndrome 2018-04-06 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031520 SCV000327120 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000031520 SCV000677681 likely pathogenic Breast-ovarian cancer, familial 2 2017-02-22 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031520 SCV000300818 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000478488 SCV000569474 pathogenic not provided 2018-02-23 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.5035delA at the cDNA level and p.Thr1679LeufsX3 (T1679LfsX3) at the protein level. The normal sequence, with the base that is deleted in braces, is GAAAA[A]CTTC. The deletion causes a frameshift which changes a Threonine to a Leucine at codon 1679, and creates a premature stop codon at position 3 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.5035delA, previously reported as BRCA2 5263delA, has been observed in at least one individual with early-onset breast cancer (Foley 2015). We consider this variant to be pathogenic.
Invitae RCV000817624 SCV000958193 pathogenic Hereditary breast and ovarian cancer syndrome 2018-12-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr1679Leufs*3) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with a personal and/or family history of breast and/or ovarian cancers (PMID: 26023681, 26845104, 29446198). This variant is also known as 5263delA in the literature. ClinVar contains an entry for this variant (Variation ID: 37939). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000478488 SCV000887835 pathogenic not provided 2017-11-14 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031520 SCV000054125 pathogenic Breast-ovarian cancer, familial 2 2011-01-11 no assertion criteria provided clinical testing
University of Washington Department of Laboratory Medicine,University of Washington RCV000210136 SCV000266041 pathogenic Breast-ovarian cancer, familial 1 2015-11-20 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.