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	2017-12-03	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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