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
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.
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.
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
Ambry Genetics RCV000510028 SCV000607819 pathogenic Hereditary cancer-predisposing syndrome 2017-07-18 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
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
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
Color RCV000510028 SCV000903413 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
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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