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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