ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6952C>T (p.Arg2318Ter) (rs80358920)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569398 SCV000661161 pathogenic Hereditary cancer-predisposing syndrome 2018-01-19 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) RCV000031658 SCV000146979 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000569398 SCV000683831 pathogenic Hereditary cancer-predisposing syndrome 2017-04-25 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031658 SCV000327549 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000031658 SCV000744504 pathogenic Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000031658 SCV000733289 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031658 SCV000282438 pathogenic Breast-ovarian cancer, familial 2 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Fulgent Genetics,Fulgent Genetics RCV000763325 SCV000894002 pathogenic Familial cancer of breast; Breast-ovarian cancer, familial 2; Fanconi anemia, complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer 2; Glioma susceptibility 3 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000212256 SCV000210408 pathogenic not provided 2017-07-14 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.6952C>T at the cDNA level and p.Arg2318Ter (R2318X) at the protein level. The substitution creates a nonsense variant, changing an Arginine to a premature stop codon (CGA>TGA). This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also known as BRCA2 7180C>T using alternate nomenclature, has been observed in individuals with breast, ovarian, pancreatic, and/or prostate cancer (Sugano 2008, Kim 2012, Hasmad 2015, Hirotsu 2015, Takai 2016, Annala 2017). We consider this variant to be pathogenic.
GeneKor MSA RCV000212256 SCV000693578 pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785228 SCV000923796 pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000569398 SCV000747805 pathogenic Hereditary cancer-predisposing syndrome 2018-01-16 criteria provided, single submitter clinical testing
Invitae RCV000045095 SCV000073108 pathogenic Hereditary breast and ovarian cancer syndrome 2018-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2318*) 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 reported in individuals affected with breast and/or ovarian cancer (PMID: 19016756, 25802882, 22217648, 25863477, 26187060). This variant is also known as 7180C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 38076). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240678 SCV000265912 pathogenic Neoplasm of the breast 2015-11-01 criteria provided, single submitter research
Mendelics RCV000045095 SCV000838846 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212256 SCV000600726 pathogenic not provided 2017-05-28 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000045095 SCV000587872 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000031658 SCV000054265 pathogenic Breast-ovarian cancer, familial 2 2012-10-09 no assertion criteria provided clinical testing

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