ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4827_4828TG[1] (p.Val1610fs) (rs80359468)

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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 RCV000162922 SCV000213409 pathogenic Hereditary cancer-predisposing syndrome 2018-03-16 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) RCV000077338 SCV000146489 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000162922 SCV000688899 pathogenic Hereditary cancer-predisposing syndrome 2017-08-17 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077338 SCV000327096 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) RCV000077338 SCV000300790 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000217237 SCV000278852 pathogenic not provided 2018-01-26 criteria provided, single submitter clinical testing This deletion of two nucleotides in BRCA2 is denoted c.4829_4830delTG at the cDNA level and p.Val1610GlyfsX4 (V1610GfsX4) at the protein level. The normal sequence, with the bases that are deleted in braces, is ACTG[TG]GTGC. The deletion causes a frameshift, which changes a Valine to a Glycine at codon 1610, and creates a premature stop codon at position 4 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.4829_4830delTG, previously defined as 5057delTG using alternate nomenclature, has been reported in several individuals with Hereditary Breast and Ovarian Cancer syndrome (Liede 2002, Rashid 2006, Ahn 2007, Kim 2012, Rosenthal 2014, Kang 2015, Alemar 2016). We consider this variant to be pathogenic.
Invitae RCV000044500 SCV000072513 pathogenic Hereditary breast and ovarian cancer syndrome 2018-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val1610Glyfs*4) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This particular variant has been reported in the literature in individuals affected with hereditary breast and ovarian cancer (PMID: 16455195, 25476495, 21607582, 21559243). This variant has also been reported as 5057del2 and c.5057delTG. ClinVar contains an entry for this variant (Variation ID: 51721). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000077338 SCV000296590 pathogenic Breast-ovarian cancer, familial 2 2016-02-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000217237 SCV000887828 pathogenic not provided 2016-02-03 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000044500 SCV000587725 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000077338 SCV000109135 pathogenic Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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