ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) (rs28897727)

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Total submissions: 31
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034440 SCV000602780 benign not provided 2017-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162541 SCV000212944 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034440 SCV000043208 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Breast Cancer Information Core (BIC) (BRCA2) RCV000083103 SCV000146395 not provided Breast-ovarian cancer, familial 2 no assertion provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000735549 SCV000219337 benign Breast and/or ovarian cancer 2016-01-06 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000120339 SCV000586948 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000034440 SCV000692771 likely benign not provided 2017-10-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034440 SCV000510802 likely benign not provided 2017-01-24 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Color RCV000162541 SCV000292117 benign Hereditary cancer-predisposing syndrome 2015-03-05 criteria provided, single submitter clinical testing
Counsyl RCV000083103 SCV000154044 likely benign Breast-ovarian cancer, familial 2 2014-01-02 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000083103 SCV000744454 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120339 SCV000591897 benign not specified 2012-03-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000083103 SCV000733255 benign Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000044377 SCV000296855 benign Hereditary breast and ovarian cancer syndrome 2015-08-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120339 SCV000225172 benign not specified 2014-11-12 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000083103 SCV000244448 benign Breast-ovarian cancer, familial 2 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000102
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735549 SCV000863687 likely pathogenic Breast and/or ovarian cancer 2008-03-29 no assertion criteria provided clinical testing
Fulgent Genetics,Fulgent Genetics RCV000083103 SCV000575731 likely benign Breast-ovarian cancer, familial 2 2015-08-26 criteria provided, single submitter clinical testing
GeneDx RCV000120339 SCV000167364 benign not specified 2013-10-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000083103 SCV000743297 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
ITMI RCV000120339 SCV000084491 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000044377 SCV000383697 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000044377 SCV000494324 benign Hereditary breast and ovarian cancer syndrome 2014-04-07 criteria provided, single submitter clinical testing
Invitae RCV000044377 SCV000072390 benign Hereditary breast and ovarian cancer syndrome 2018-01-09 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034440 SCV000778674 benign not provided 2016-12-12 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000083103 SCV000195982 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Pathway Genomics RCV000083103 SCV000187734 likely benign Breast-ovarian cancer, familial 2 2014-07-24 no assertion criteria provided literature only
PreventionGenetics RCV000120339 SCV000805705 benign not specified 2017-06-20 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083103 SCV000115177 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing
True Health Diagnostics RCV000162541 SCV000787930 benign Hereditary cancer-predisposing syndrome 2018-01-05 no assertion criteria provided clinical testing
Vantari Genetics RCV000162541 SCV000267017 likely benign Hereditary cancer-predisposing syndrome 2016-02-04 criteria provided, single submitter clinical testing

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