ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2818C>T (p.Gln940Ter) (rs80358532)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131103 SCV000186033 pathogenic Hereditary cancer-predisposing syndrome 2017-08-04 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) RCV000031385 SCV000146121 pathogenic Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031385 SCV000326770 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) RCV000031385 SCV000300562 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 RCV000521686 SCV000616940 pathogenic not provided 2017-07-17 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.2818C>T at the cDNA level and p.Gln940Ter (Q940X) at the proteinlevel. 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 mRNAdecay. Using alternate nomenclature, this variant would be defined as BRCA2 3046C>T. Although this variant has not,to our knowledge, been reported in the literature, it is considered pathogenic
Invitae RCV000044068 SCV000072081 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 940 (p.Gln940*) of BRCA2 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000031385 SCV000053990 pathogenic Breast-ovarian cancer, familial 2 2012-05-09 no assertion criteria provided clinical testing

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