ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5656C>T (p.Gln1886Ter) (rs80358790)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000113455 SCV000146659 pathogenic Breast-ovarian cancer, familial 2 2000-08-16 no assertion criteria provided clinical testing
Color RCV000446276 SCV000537640 pathogenic Hereditary cancer-predisposing syndrome 2015-12-28 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113455 SCV000327256 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000044710 SCV000591984 pathogenic Hereditary breast and ovarian cancer syndrome 2014-04-15 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113455 SCV000300915 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735570 SCV000863708 pathogenic Breast and/or ovarian cancer 2014-03-24 no assertion criteria provided clinical testing
GeneDx RCV000480447 SCV000567305 pathogenic not provided 2017-12-06 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.5656C>T at the cDNA level and p.Gln1886Ter (Q1886X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>TAA), 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 5884C>T using alternate nomenclature, has been reported in Korean individuals with breast cancer (Seong 2009, Kim 2012, Kang 2015) and is considered pathogenic.
Invitae RCV000044710 SCV000072723 pathogenic Hereditary breast and ovarian cancer syndrome 2014-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1886 (p.Gln1886*). It is expected to result in an absent or disrupted protein product. Truncating sequence changes in BRCA2 are known to be pathogenic. This particular truncation has been reported in the literature (PMID: 19656164). For these reasons, this sequence change has been classified as Pathogenic.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000044710 SCV000587788 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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