ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5700_5701AG[1] (p.Glu1901fs) (rs80359528)

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Total submissions: 7
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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) RCV000113463 SCV000300918 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 RCV000113463 SCV000327268 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000478165 SCV000566646 pathogenic not provided 2017-12-12 criteria provided, single submitter clinical testing This deletion of 2 nucleotides in BRCA2 is denoted c.5702_5703delAG at the cDNA level and p.Glu1901GlyfsX5 (E1901GfsX5) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 5930_5931delAG or 5930delAG. The normal sequence, with the bases that are deleted in braces, is TCAG[AG]GATA. The deletion causes a frameshift, which changes a Glutamic Acid to a Glycine at codon 1901, and creates a premature stop codon at position 5 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000478165 SCV000600658 pathogenic not provided 2016-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573533 SCV000661156 pathogenic Hereditary cancer-predisposing syndrome 2017-01-19 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) RCV000113463 SCV000146668 pathogenic Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496737 SCV000587794 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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