ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6059_6062del (p.Glu2020fs) (rs398122546)

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Total submissions: 10
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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) RCV000076952 SCV000300974 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000076952 SCV000327342 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000496781 SCV000592025 pathogenic Hereditary breast and ovarian cancer syndrome 2013-01-24 criteria provided, single submitter clinical testing
Department of Medical Genetics,Oslo University Hospital RCV000076952 SCV000605685 pathogenic Breast-ovarian cancer, familial 2 2015-07-21 criteria provided, single submitter clinical testing
Invitae RCV000496781 SCV000635489 pathogenic Hereditary breast and ovarian cancer syndrome 2018-12-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu2020Valfs*19) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in a family, and an independent individual affected with breast cancer (PMID: 15951958, 28637432). This variant has also been reported as 6287_6290del in the literature. ClinVar contains an entry for this variant (Variation ID: 91435). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000562084 SCV000661171 pathogenic Hereditary cancer-predisposing syndrome 2017-06-14 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)
Color RCV000562084 SCV000683751 pathogenic Hereditary cancer-predisposing syndrome 2015-04-07 criteria provided, single submitter clinical testing
GeneDx RCV000657383 SCV000779116 pathogenic not provided 2017-09-07 criteria provided, single submitter clinical testing This deletion of four nucleotides in BRCA2 is denoted c.6059_6062delAACA at the cDNA level and p.Glu2020ValfsX19 (E2020VfsX19) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 6287_6290delAACA. The normal sequence, with the bases that are deleted in brackets, is AACG[delAACA]TTCA. The deletion causes a frameshift which changes a Glutamic Acid to a Valine at codon 2020, and creates a premature stop codon at position 19 of the new reading frame. This variant has been observed in at least one case of early-onset breast cancer (Grindedal 2017) and it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000076952 SCV000108749 pathogenic Breast-ovarian cancer, familial 2 2007-03-05 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496781 SCV000587820 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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