ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6082_6086del (p.Glu2028fs) (rs80359558)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131112 SCV000186042 pathogenic Hereditary cancer-predisposing syndrome 2017-04-03 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) RCV000077368 SCV000146764 pathogenic Breast-ovarian cancer, familial 2 1999-06-22 no assertion criteria provided clinical testing
Color RCV000131112 SCV000688967 pathogenic Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077368 SCV000327350 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000077368 SCV000677691 pathogenic Breast-ovarian cancer, familial 2 2016-12-11 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000496338 SCV000592028 pathogenic Hereditary breast and ovarian cancer syndrome 2014-05-20 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077368 SCV000300979 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 RCV000735580 SCV000863718 pathogenic Breast and/or ovarian cancer 2014-06-02 no assertion criteria provided clinical testing
GeneDx RCV000235143 SCV000210774 pathogenic not provided 2015-04-28 criteria provided, single submitter clinical testing This deletion of 5 nucleotides is denoted BRCA2 c.6082_6086delGAAGA at the cDNA level and p.Glu2028LysfsX19 (E2028KfsX19) at the protein level. The normal sequence, with the bases that are deleted in brackets, is AAGA[GAAGA]AAAT. The deletion causes a frameshift, which changes a Glutamic Acid to a Lysine at codon 2028, and creates a premature stop codon at position 19 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 6082_6086delGAAGA, previously reported as c.6310del5, has been reported in a woman with familial breast cancer and is considered pathogenic (Bergthorsson 2001).
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496338 SCV000587824 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000077368 SCV000109165 pathogenic Breast-ovarian cancer, familial 2 2009-09-29 no assertion criteria provided clinical testing

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