ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2312T>G (p.Leu771Ter) (rs587782095)

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Total submissions: 6
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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) RCV000241179 SCV000300506 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000130606 SCV000185481 pathogenic Hereditary cancer-predisposing syndrome 2016-08-09 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)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000241179 SCV000326690 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000657630 SCV000779373 pathogenic not provided 2017-12-27 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.2312T>G at the cDNA level and p.Leu771Ter (L771X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 c.2540T>G. The substitution creates a nonsense variant, which changes a Leucine to a premature stop codon (TTA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in at least two individuals with a personal and/or family history of breast and/or ovarian cancer (Tea 2014) and is considered pathogenic.
Color RCV000130606 SCV000911670 pathogenic Hereditary cancer-predisposing syndrome 2018-03-29 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496732 SCV000587628 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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