ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.250C>T (p.Gln84Ter) (rs80358515)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564855 SCV000665934 pathogenic Hereditary cancer-predisposing syndrome 2017-08-03 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) RCV000077281 SCV000146448 not provided Breast-ovarian cancer, familial 2 no assertion provided clinical testing
Color RCV000564855 SCV000903712 pathogenic Hereditary cancer-predisposing syndrome 2015-06-10 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077281 SCV000326715 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077281 SCV000282368 pathogenic Breast-ovarian cancer, familial 2 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000044007 SCV000210438 pathogenic not provided 2016-02-08 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.250C>T at the cDNA level and p.Gln84Ter (Q84X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 Gln84Ter, previously reported as 478C>T, has been observed in at least three individuals from Hereditary Breast and Ovarian Cancer families and is considered pathogenic (Turkovic 2010, Muller 2011, Kwong 2012).
Invitae RCV000195353 SCV000072020 pathogenic Hereditary breast and ovarian cancer syndrome 2018-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 84 (p.Gln84*). It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Truncating variants in BRCA2 are known to be pathogenic. This particular truncation has been reported in the literature in individuals affected with breast, ovarian and prostate cancer (PMID: 22970155, 21939546, 18445692, 20858050, 20807450). This variant is also known as 478C>T in the literature.  ClinVar contains an entry for this variant (Variation ID: 51298). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000044007 SCV000296646 pathogenic not provided 2015-07-18 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000195353 SCV000587543 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000077281 SCV000109078 pathogenic Breast-ovarian cancer, familial 2 2011-01-18 no assertion criteria provided 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.