ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3455T>G (p.Leu1152Ter) (rs80358593)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509646 SCV000608126 pathogenic Hereditary cancer-predisposing syndrome 2016-07-06 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)
Breast Cancer Information Core (BIC) (BRCA2) RCV000113180 SCV000146239 pathogenic Breast-ovarian cancer, familial 2 2001-10-29 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113180 SCV000326868 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113180 SCV000300636 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 RCV000505837 SCV000779332 pathogenic not provided 2018-05-04 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.3455T>G at the cDNA level and p.Leu1152Ter (L1152X) at the protein level. 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, also known as BRCA2 3683T>G using alternate nomenclature, has been reported in association with hereditary breast and ovarian cancer syndrome (Guti?rrez-Enr?quez 2011, Gabald? Barrios 2017) and is considered pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505837 SCV000296510 pathogenic not provided 2016-05-20 criteria provided, single submitter clinical testing

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