ClinVar Miner

Variants in gene BRCA2

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
3943 572 6677 3258 1061 4 1 308 13443

Condition and significance breakdown #

Total conditions: 73
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Hereditary breast and ovarian cancer syndrome 1903 283 4025 1476 280 0 0 3 7769
Hereditary cancer-predisposing syndrome 1347 138 3447 2092 274 0 0 0 6825
Breast-ovarian cancer, familial 2 2975 168 1876 1158 862 0 0 28 6249
not provided 861 100 1564 764 117 0 0 9 3254
not specified 38 1 873 1033 290 0 0 86 1976
Malignant tumor of breast 129 7 185 108 53 0 0 0 481
Familial cancer of breast 124 12 9 5 62 1 0 186 394
Breast and/or ovarian cancer 98 14 97 55 28 0 0 0 283
Fanconi anemia, complementation group D1 22 1 110 61 27 0 0 0 218
none provided 26 2 35 39 70 0 0 0 172
Breast neoplasm 51 1 76 17 0 0 0 0 144
Breast-ovarian cancer, familial 1 77 2 0 0 0 0 0 0 79
Familial cancer of breast; Breast-ovarian cancer, familial 2; Fanconi anemia, complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer 2; Glioma susceptibility 3 16 0 32 0 1 0 0 0 49
Neoplasm of ovary 33 1 1 0 0 0 0 0 35
Fanconi anemia 1 0 10 7 1 0 0 0 19
Breast-ovarian cancer, familial 2; Hereditary breast and ovarian cancer syndrome 12 0 1 0 0 0 0 0 13
Cancer of the pancreas 3 0 9 1 0 0 0 0 13
Breast cancer, susceptibility to 0 4 6 1 0 0 0 0 11
Carcinoma of pancreas 9 0 0 0 0 0 0 0 9
Ovarian cancer 2 0 6 1 0 0 0 0 9
Infiltrating duct carcinoma of breast 2 0 6 0 0 0 0 0 8
Breast carcinoma 2 1 0 1 3 0 0 0 7
Familial cancer of breast; Breast-ovarian cancer, familial 2; Fanconi anemia, complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer 2; Glioma susceptibility 3; Tracheoesophageal fistula 5 0 2 0 0 0 0 0 7
Rhabdomyosarcoma (disease) 6 0 1 0 0 0 0 0 7
BRCA2-Related Disorders 5 1 0 0 0 0 0 0 6
Carcinoma of colon 0 2 2 1 0 0 0 0 5
Endometrial carcinoma 0 0 3 1 0 0 0 0 4
Genetic non-acquired premature ovarian failure 4 0 0 0 0 0 0 0 4
Inborn genetic diseases 3 0 1 0 0 0 0 0 4
Acute myeloid leukemia 0 0 3 0 0 0 0 0 3
B lymphoblastic leukemia lymphoma with hyperdiploidy 0 0 3 0 0 0 0 0 3
Colorectal cancer 2 0 1 0 0 0 0 0 3
Malignant tumor of prostate 2 0 1 0 0 0 0 0 3
Tumor susceptibility linked to germline BAP1 mutations 2 0 0 0 1 0 0 0 3
Wilms tumor 1 2 0 1 0 0 0 0 0 3
Anaplastic/large cell medulloblastoma 0 0 2 0 0 0 0 0 2
Ductal breast carcinoma 0 0 2 0 0 0 0 0 2
Glioma susceptibility 3 0 0 0 0 0 2 0 0 2
Medulloblastoma 2 0 0 0 0 0 0 0 2
Neuroblastoma 0 0 1 0 0 0 1 0 2
Retinoblastoma 0 0 2 0 0 0 0 0 2
Ateleiotic dwarfism 1 0 0 0 0 0 0 0 1
Atypical teratoid/rhabdoid tumor 0 0 1 0 0 0 0 0 1
Breast-ovarian cancer, familial 2; Fanconi anemia, complementation group D1 1 0 0 0 0 0 0 0 1
Carcinoma of esophagus 0 0 0 1 0 0 0 0 1
Carcinoma of male breast 0 0 0 1 0 0 0 0 1
Cerebral palsy; Hearing impairment; Neurodevelopmental delay 0 1 0 0 0 0 0 0 1
Diffuse intrinsic pontine glioma 1 0 0 0 0 0 0 0 1
Familial cancer of breast; Breast-ovarian cancer, familial 2; Malignant tumor of prostate 0 1 0 0 0 0 0 0 1
Fanconi anemia, complementation group D1; Hereditary breast and ovarian cancer syndrome 0 0 0 0 0 0 0 1 1
Focal seizures 1 0 0 0 0 0 0 0 1
Hereditary breast cancer 0 1 0 0 0 0 0 0 1
Intellectual disability 1 0 0 0 0 0 0 0 1
Invasive Breast Carcinoma 0 0 1 0 0 0 0 0 1
Invasive Lobular Breast Carcinoma 0 0 1 0 0 0 0 0 1
Malignant tumor of esophagus 0 0 1 0 0 0 0 0 1
Malignant tumor of prostate; Metastatic Prostate Small Cell Carcinoma 1 0 0 0 0 0 0 0 1
Malignant tumor of prostate; Prostate neoplasm 0 0 1 0 0 0 0 0 1
Melanoma 0 0 1 0 0 0 0 0 1
Metastatic Prostate Small Cell Carcinoma 0 0 1 0 0 0 0 0 1
Metastatic pancreatic neuroendocrine tumours 0 1 0 0 0 0 0 0 1
Microprolactinoma 0 0 1 0 0 0 0 0 1
Migraine; Obesity; Short attention span; Muscle weakness; Headache; Nephrolithiasis; Striae distensae; Ectopic ossification; Asthma 1 0 0 0 0 0 0 0 1
Neuroendocrine tumor of pancreas 1 0 0 0 0 0 0 0 1
Ovarian Serous Surface Papillary Adenocarcinoma 0 1 0 0 0 0 0 0 1
Ovarian cancer; Malignant tumor of breast 1 0 0 0 0 0 0 0 1
Pancreatic cancer 2 0 0 0 0 0 1 0 0 1
Paroxysmal nonkinesigenic dyskinesia 1 0 1 0 0 0 0 0 0 1
Pituitary carcinoma 0 0 1 0 0 0 0 0 1
Polydactyly 1 0 0 0 0 0 0 0 1
See cases 1 0 0 0 0 0 0 0 1
T Lymphoblastic Leukemia/Lymphoma 0 0 1 0 0 0 0 0 1
bilateral breast cancer 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 146
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Invitae 1697 104 3951 1634 275 0 0 3 7663
Ambry Genetics 1118 86 2481 1425 166 0 0 0 5276
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 2677 0 3 738 686 0 0 0 4104
Color Health, Inc 653 60 1871 1178 192 0 0 0 3954
GeneDx 634 36 788 744 152 0 0 0 2354
Breast Cancer Information Core (BIC) (BRCA2) 795 0 1086 0 61 0 0 25 1966
Integrated Genetics/Laboratory Corporation of America 396 134 851 429 131 0 0 0 1941
Quest Diagnostics Nichols Institute San Juan Capistrano 446 63 868 265 67 0 0 0 1698
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 1697 0 0 0 0 0 0 0 1697
Sharing Clinical Reports Project (SCRP) 520 21 584 145 192 0 0 0 1462
Department of Pathology and Laboratory Medicine,Sinai Health System 236 24 332 208 132 0 0 0 932
Counsyl 140 101 433 189 64 0 0 0 927
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 451 2 34 0 10 0 0 0 497
Mendelics 66 23 176 120 38 0 0 0 422
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 86 3 92 93 119 0 0 0 393
Illumina Clinical Services Laboratory,Illumina 5 1 119 87 28 0 0 0 225
Michigan Medical Genetics Laboratories,University of Michigan 48 2 34 32 91 0 0 0 207
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 67 0 8 50 75 0 0 0 200
PreventionGenetics, PreventionGenetics 15 0 42 61 64 0 0 0 182
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 180 180
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 37 9 58 48 21 0 0 0 173
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 20 1 51 23 63 0 0 0 158
CeGaT Praxis fuer Humangenetik Tuebingen 43 6 53 54 0 0 0 0 156
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 82 4 30 12 18 0 0 0 146
Genome Diagnostics Laboratory,University Medical Center Utrecht 24 2 3 55 60 0 0 0 144
GeneKor MSA 88 6 22 0 28 0 0 0 144
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 77 1 5 12 46 0 0 0 141
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 44 5 40 6 8 0 0 0 103
Baylor Genetics 25 0 18 0 59 0 0 0 101
Mayo Clinic Laboratories, Mayo Clinic 12 0 15 43 29 0 0 0 99
Fulgent Genetics,Fulgent Genetics 26 1 41 17 9 0 0 0 94
Department of Medical Genetics, Oslo University Hospital 81 7 0 0 0 0 0 0 88
ITMI 0 0 0 0 0 0 0 86 86
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 17 0 20 2 46 0 0 0 85
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 82 0 0 0 0 0 0 0 82
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University 26 1 47 0 0 0 0 0 74
True Health Diagnostics 8 1 6 47 8 0 0 0 70
Genetic Services Laboratory, University of Chicago 5 0 17 34 12 0 0 0 68
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 62 6 0 0 0 0 0 0 68
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 10 0 10 46 0 0 0 0 66
Department of Pathology and Molecular Medicine,Queen's University 35 1 15 3 12 0 0 0 66
Institute of Human Genetics, University of Leipzig Medical Center 26 8 22 5 0 0 0 0 61
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 7 0 28 9 11 0 0 0 55
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 51 3 1 0 0 0 0 0 55
CZECANCA consortium 52 0 0 0 0 0 0 0 52
Pathway Genomics 7 0 10 15 14 0 0 0 46
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 42 4 0 0 0 0 0 0 46
3DMed Clinical Laboratory Inc 12 1 28 2 0 0 0 0 43
University of Washington Department of Laboratory Medicine, University of Washington 17 2 0 20 1 0 0 0 40
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 8 30 1 0 0 0 0 0 39
CSER _CC_NCGL, University of Washington 3 1 12 20 2 0 0 0 37
Genologica Medica 36 0 0 0 0 0 0 0 36
OMIM 29 0 2 0 0 3 0 0 31
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 30 1 0 0 0 0 0 0 31
King Laboratory,University of Washington 12 0 1 0 16 0 0 0 29
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 9 11 8 0 0 0 28
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 11 0 16 0 0 0 0 0 27
Genomic Research Center, Shahid Beheshti University of Medical Sciences 14 0 5 1 3 0 0 3 25
Division of Human Genetics,Medical University Innsbruck 21 2 0 0 0 0 0 0 23
Center of Medical Genetics and Primary Health Care 12 2 1 1 3 1 0 0 20
Centre for Mendelian Genomics,University Medical Centre Ljubljana 7 1 9 2 0 0 0 0 19
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 8 7 0 0 0 17
Vantari Genetics 0 0 3 9 5 0 0 0 17
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 1 0 14 2 0 0 0 0 17
GenomeConnect, ClinGen 0 0 0 0 0 0 0 16 16
Hereditary Cancer Genetics group,Vall d'Hebron Institute of Oncology 7 0 2 0 7 0 0 0 16
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 14 1 0 0 0 0 0 0 15
Genomic Center,National Cancer Institute 15 0 0 0 0 0 0 0 15
Department of Medical Genetics, University Hospital of North Norway 0 0 7 6 1 0 0 0 14
Yang An-Suei Laboratory,Academia Sinica 10 0 0 0 0 0 0 0 10
Cancer Molecular Diagnostics Core,Tianjin Medical University Cancer Institute and Hospital 0 4 6 0 0 0 0 0 10
Division of Medical Genetics, University of Washington 5 0 5 0 0 0 0 0 10
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 3 0 0 0 0 0 0 8
Gharavi Laboratory,Columbia University 8 0 0 0 0 0 0 0 8
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 7 0 0 0 7
Institute of Genomics,University of Tartu 7 0 0 0 0 0 0 0 7
Academic Department of Medical Genetics, University of Cambridge 2 4 0 0 0 0 0 0 6
MVZ Praenatalmedizin und Genetik Nuernberg 3 0 3 0 0 0 0 0 6
Pittsburgh Clinical Genomics Laboratory,University of Pittsburgh Medical Center 2 1 3 0 0 0 0 0 6
Faculty of Pharmacy, Ain Shams University 5 0 0 0 0 0 0 0 5
Bioinformatics dept.,Datar Cancer Genetics Limited, India 5 0 0 0 0 0 0 0 5
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 3 0 2 0 0 0 0 0 5
Curoverse 4 0 0 0 0 0 0 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 0 3 0 0 0 0 0 4
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University,Faculty of Medicine Ramathibodi Hospital, Mahidol University 1 0 0 0 3 0 0 0 4
Institute of Human Genetics,University of Wuerzburg 2 1 1 0 0 0 0 0 4
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 1 0 0 1 0 0 0 4
Center for Reproductive Medicine,Shandong Provincial Hospital Affiliated to Shandong University 4 0 0 0 0 0 0 0 4
Liquid Biopsy and Precision Medicine Group,Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 2 0 2 0 0 0 0 0 4
Laboratory of Biomedical Genomics and Oncogenetics,Institut Pasteur de Tunis 4 0 0 0 0 0 0 0 4
GeneReviews 3 0 0 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 2 1 0 0 0 0 0 0 3
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 3 0 0 0 0 3
Broad Institute Rare Disease Group, Broad Institute 3 0 0 0 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 2 1 0 0 0 0 0 0 3
Medical Genetics Institute,Shaare Zedek Medical Center 2 0 0 0 0 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 0 0 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 1 0 0 0 0 0 2
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 1 0 1 0 0 0 0 0 2
Veritas Genetics,Veritas Genetics 2 0 0 0 0 0 0 0 2
Genetic Predisposition to Colorectal Cancer Group,Institut d’Investigacions Biomediques August Pi i Sunyer 0 2 0 0 0 0 0 0 2
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 2 0 0 0 0 0 2
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1 0 2
Daryl Scott Lab,Baylor College of Medicine 2 0 0 0 0 0 0 0 2
Centre for Molecular Diagnostics & Cell Biology,Rajiv Gandhi Cancer Institute & Research Center 1 0 1 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 0 0 0 0 0 0 2
Department of Pediatrics,Memorial Sloan Kettering Cancer Center 2 0 0 0 0 0 0 0 2
Academic Center for Education, Culture and Research, Motamed Cancer Institute 2 0 0 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 2 0 0 0 0 2
Lab of Molecular Oncology,Sapienza University of Rome 2 0 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 1 0 0 0 2
Center for Studies on Hereditary Cancer,University of Bologna 1 0 1 0 0 0 0 0 2
ACT Genomics, 2 0 0 0 0 0 0 0 2
New York Genome Center 1 1 0 0 0 0 0 0 2
Rudy L. Ruggles Biomedical Research Institute,Danbury Hospital 1 0 1 0 0 0 0 0 2
Department of Medical Laboratory Science, Faculty of Allied Health Sciences,University of Peradeniya 2 0 0 0 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 0 0 1
Lineagen, Inc 0 0 1 0 0 0 0 0 1
Shiraz Institute for Cancer Research, Shiraz University of Medical Sciences 0 1 0 0 0 0 0 0 1
ISCA site 1 1 0 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 1 0 0 0 0 0 0 1
Dr. Peter K. Rogan Lab,Western University 0 0 1 0 0 0 0 0 1
Human Genetics Unit,University of Colombo 1 0 0 0 0 0 0 0 1
IntelligeneCG 0 0 0 0 1 0 0 0 1
Clinical Molecular and Personalized Diagnostics,Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital Agostino Gemelli Foundation 1 0 0 0 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 0 0 0 0 0 0 1
Genomics Laboratory,Virgen de la Arrixaca University Clinical Hospital 0 1 0 0 0 0 0 0 1
School of Basic Medicine,Fourth Military Medical University 0 1 0 0 0 0 0 0 1
Istenhegyi Gendiagnosztika Kft 0 1 0 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 0 0 1
Service de Génétique Médicale,Institut Central des Hôpitaux 0 0 1 0 0 0 0 0 1
International Hereditary Cancer Center PUM,Pomeranian Medical University 0 0 1 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 0 1 0 0 0 0 0 0 1
Human Cancer Genomic Research,King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 0 0 1
UOSA Diagnostica Molecolare e Genomica,IRCCS Policlinico Agostino Gemelli 1 0 0 0 0 0 0 0 1
Genetic Diagnosis Center, Faculty of Medicine, Trakya University 0 1 0 0 0 0 0 0 1
Division of Human Genetics,University Cheikh Anta Diop 0 1 0 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 0 0 1
Molecular Section,Niloo Genom lab 1 0 0 0 0 0 0 0 1
Laboratorios - Biologia Molecular Oncohematologica,Hospital Privado Universitario de Cordoba 1 0 0 0 0 0 0 0 1

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