ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7024C>T (p.Gln2342Ter) (rs80358928)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215667 SCV000273810 pathogenic Hereditary cancer-predisposing syndrome 2017-03-16 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) RCV000077396 SCV000147003 pathogenic Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000215667 SCV000683844 pathogenic Hereditary cancer-predisposing syndrome 2016-05-16 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077396 SCV000327580 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000077396 SCV000785707 pathogenic Breast-ovarian cancer, familial 2 2017-11-08 criteria provided, single submitter clinical testing
Department of Medical Genetics,Oslo University Hospital RCV000077396 SCV000605672 pathogenic Breast-ovarian cancer, familial 2 2015-07-01 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077396 SCV000301121 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Gharavi Laboratory,Columbia University RCV000681960 SCV000809455 pathogenic not provided 2018-09-16 no assertion criteria provided research
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000077396 SCV000778598 likely pathogenic Breast-ovarian cancer, familial 2 2018-01-23 criteria provided, single submitter research
Integrated Genetics/Laboratory Corporation of America RCV000496229 SCV000919013 pathogenic Hereditary breast and ovarian cancer syndrome 2018-10-12 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.7024C>T (p.Gln2342X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. p.Arg2394X, p.Ile2454fsX13, p.Asn2460fsX15). 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4.1e-06 in 246056 control chromosomes. c.7024C>T has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer (Couch_2015, Grindedal_2017, Panchal_2009). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Nine clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000077396 SCV000296617 pathogenic Breast-ovarian cancer, familial 2 2015-09-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000681960 SCV000889122 pathogenic not provided 2015-09-22 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496229 SCV000587881 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000077396 SCV000109193 pathogenic Breast-ovarian cancer, familial 2 2013-11-07 no assertion criteria provided clinical testing

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