ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4708_4709AG[2] (p.Glu1571fs) (rs80359464)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164613 SCV000215276 pathogenic Hereditary cancer-predisposing syndrome 2017-01-06 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) RCV000031500 SCV000146473 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Color RCV000164613 SCV000683647 pathogenic Hereditary cancer-predisposing syndrome 2017-02-21 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031500 SCV000327074 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) RCV000031500 SCV000282395 pathogenic Breast-ovarian cancer, familial 2 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000213951 SCV000279271 pathogenic not provided 2018-06-15 criteria provided, single submitter clinical testing This deletion of two nucleotides in BRCA2 is denoted c.4712_4713delAG at the cDNA level and p.Glu1571GlyfsX3(E1571GfsX3) at the protein level. Using alternate nomenclature, this variant has been defined as BRCA2 c.4940_4941delAG and BRCA2 4936delAG. The normal sequence, with the bases that are deleted in brackets, is AGAG[delAG]GCCT. The deletion causes a frameshift, which changes a Glutamic Acid to a Glycine at codon 1571, and creates a premature stop codon at position 3 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 c.4712_4713delAG has been observed individuals with breast cancer (Lancaster 1996, Young 2009). We consider this variant to be pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000257921 SCV000694798 pathogenic Hereditary breast and ovarian cancer syndrome 2016-01-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000213951 SCV000600603 pathogenic not provided 2016-08-09 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000257921 SCV000587721 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000031500 SCV000054105 pathogenic Breast-ovarian cancer, familial 2 2009-08-12 no assertion criteria provided clinical testing

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