ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9331G>T (p.Glu3111Ter) (rs397508047)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130826 SCV000185722 pathogenic Hereditary cancer-predisposing syndrome 2016-12-05 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 RCV000130826 SCV000905026 pathogenic Hereditary cancer-predisposing syndrome 2018-08-27 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000241167 SCV000301379 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 RCV000212289 SCV000210504 pathogenic not provided 2017-02-02 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.9331G>T at the cDNA level and p.Glu3111Ter (E3111X) 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 published as BRCA2 9559G>T using alternate nomenclature, has been reported in at least one woman with triple-negative breast cancer (Gonzalez-Angulo 2011) and is considered pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212289 SCV000887961 pathogenic not provided 2018-03-27 criteria provided, single submitter clinical testing

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