ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4243G>T (p.Glu1415Ter) (rs397507327)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000510028 SCV000607819 pathogenic Hereditary cancer-predisposing syndrome 2017-07-18 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)
Color RCV000510028 SCV000903413 pathogenic Hereditary cancer-predisposing syndrome 2017-12-03 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031471 SCV000326994 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000031471 SCV000786424 pathogenic Breast-ovarian cancer, familial 2 2018-04-30 criteria provided, single submitter clinical testing
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000031471 SCV000891482 pathogenic Breast-ovarian cancer, familial 2 2017-12-30 criteria provided, single submitter curation
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031471 SCV000300725 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 RCV000762917 SCV000893329 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 RCV000219707 SCV000278850 pathogenic not provided 2015-08-25 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.4243G>T at the cDNA level and p.Glu1415Ter (E1415X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, previously reported as c.4471G>T and p.Glu1416X, has been observed in multiple individuals with Hereditary Breast and Ovarian Cancer (Walsh 2011, Kluska 2015) and is considered pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000031471 SCV000054076 pathogenic Breast-ovarian cancer, familial 2 2011-08-19 no assertion criteria provided clinical testing

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