ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1399A>T (p.Lys467Ter) (rs80358427)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131059 SCV000185989 pathogenic Hereditary cancer-predisposing syndrome 2017-07-12 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) RCV000077256 SCV000145865 pathogenic Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077256 SCV000326548 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) RCV000077256 SCV000300425 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Fulgent Genetics,Fulgent Genetics RCV000762915 SCV000893327 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 RCV000221316 SCV000279591 pathogenic not provided 2018-04-05 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.1399A>T at the cDNA level and p.Lys467Ter (K467X) at the protein level. The substitution creates a nonsense variant, which changes a Lysine to a premature stop codon (AAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also reported as BRCA2 1627A>T using alternate nomenclature, has been observed in several individuals with early-onset and/or familial breast cancer and is a recurrent pathogenic variant in the Korean population (Kang 2002, Kim 2006, Ahn 2007, Han 2011, Ou 2013). We consider this variant to be pathogenic.
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240776 SCV000265897 pathogenic Neoplasm of the breast 2015-11-01 criteria provided, single submitter research
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000077256 SCV000296574 pathogenic Breast-ovarian cancer, familial 2 2016-01-27 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077256 SCV000109053 pathogenic Breast-ovarian cancer, familial 2 2010-07-06 no assertion criteria provided clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000077256 SCV000267231 pathogenic Breast-ovarian cancer, familial 2 2016-03-18 criteria provided, single submitter reference population

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