ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5626G>T (p.Glu1876Ter) (rs397507793)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129291 SCV000184052 pathogenic Hereditary cancer-predisposing syndrome 2013-11-01 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)
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000241406 SCV000300908 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 RCV000657632 SCV000779375 pathogenic not provided 2018-02-19 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.5626G>T at the cDNA level and p.Glu1876Ter (E1876X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAA>TAA), and is predicted to cause loss of normal protein function through protein truncation. This variant, also known as 5857G>T or 5854G>T using alternate nomenclature, has been reported in a family with breast cancer (Phelan 1996) and is considered pathogenic.

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