ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4003G>T (p.Glu1335Ter) (rs747070579)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220552 SCV000277421 pathogenic Hereditary cancer-predisposing syndrome 2015-07-24 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768628 SCV000324879 likely pathogenic Breast and/or ovarian cancer 2016-02-22 criteria provided, single submitter clinical testing
Color RCV000220552 SCV000906073 pathogenic Hereditary cancer-predisposing syndrome 2018-08-13 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000241203 SCV000326956 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) RCV000241203 SCV000300695 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000257988 SCV000549841 pathogenic Hereditary breast and ovarian cancer syndrome 2016-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1335 (p.Glu1335*) of the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic. This particular variant has been reported in the literature in an individual affected with pancreatic cancer (PMID: 25072261). For these reasons, this variant has been classified as Pathogenic.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000257988 SCV000587693 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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