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
3597 466 5693 2881 1038 4 1 305 11876

Condition and significance breakdown #

Total conditions: 67
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Hereditary cancer-predisposing syndrome 1225 123 3156 1845 270 0 0 0 6233
Breast-ovarian cancer, familial 2 2969 164 1830 1145 860 0 0 26 6198
Hereditary breast and ovarian cancer syndrome 1362 185 2767 983 271 0 0 3 5396
not provided 766 86 1379 690 121 0 0 8 2916
not specified 43 1 717 1003 257 0 0 86 1757
Familial cancer of breast 92 6 2 0 62 1 0 186 347
Breast and/or ovarian cancer 66 14 97 55 28 0 0 0 252
Fanconi anemia, complementation group D1 20 1 108 61 27 0 0 0 214
Neoplasm of the breast 51 1 76 17 0 0 0 0 144
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
Ovarian Neoplasms 30 1 0 0 0 0 0 0 31
Fanconi anemia 1 0 10 7 1 0 0 0 19
Breast-ovarian cancer, familial 1 18 0 0 0 0 0 0 0 18
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
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
BRCA2-Related Disorders 5 1 0 0 0 0 0 0 6
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
Neoplasm of ovary 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
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
Anaplastic/large cell medulloblastoma 0 0 2 0 0 0 0 0 2
Carcinoma of colon 0 2 0 0 0 0 0 0 2
Colorectal cancer 1 0 1 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
Hereditary Cancer Syndrome 2 0 0 0 0 0 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
Wilms tumor 1 2 0 0 0 0 0 0 0 2
breast cancer 0 0 1 0 1 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
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) 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
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; Prostate neoplasm 0 0 1 0 0 0 0 0 1
Melanoma 0 0 1 0 0 0 0 0 1
Metastatic pancreatic neuroendocrine tumours 0 1 0 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; breast cancer 1 0 0 0 0 0 0 0 1
Pancreatic cancer 2 0 0 0 0 0 1 0 0 1
Pituitary carcinoma 0 0 1 0 0 0 0 0 1
Polydactyly 1 0 0 0 0 0 0 0 1
Rhabdomyosarcoma (disease) 0 0 1 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: 126
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Invitae 1011 65 2667 1283 266 0 0 3 5294
Ambry Genetics 1093 97 2595 1332 160 0 0 0 5277
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 2677 0 3 738 686 0 0 0 4104
Color 466 33 1234 895 192 0 0 0 2820
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
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
Quest Diagnostics Nichols Institute San Juan Capistrano 405 55 701 199 51 0 0 0 1400
Integrated Genetics/Laboratory Corporation of America 273 88 592 315 100 0 0 0 1364
Counsyl 140 101 433 189 64 0 0 0 927
Department of Pathology and Laboratory Medicine,Sinai Health System 153 17 173 138 117 0 0 0 598
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 451 2 34 0 10 0 0 0 497
Mendelics 67 23 187 120 38 0 0 0 422
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 70 1 60 70 115 0 0 0 316
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
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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 74 3 30 12 18 0 0 0 137
CeGaT Praxis fuer Humangenetik Tuebingen 28 5 40 38 0 0 0 0 111
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 44 5 40 6 8 0 0 0 103
Mayo Clinic Genetic Testing 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
Baylor Genetics 25 0 0 0 59 0 0 0 84
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 18 41 4 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
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 7 0 28 9 11 0 0 0 55
Pathway Genomics 7 0 10 15 14 0 0 0 46
3DMed Clinical Laboratory Inc 12 1 28 2 0 0 0 0 43
CSER _CC_NCGL, University of Washington 3 1 12 20 2 0 0 0 37
University of Washington Department of Laboratory Medicine, University of Washington 16 0 0 20 1 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
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 29 2 0 0 0 0 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
Division of Genomic Diagnostics,The 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 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
Center of Medical Genetics and Primary Health Care 12 2 1 0 1 1 0 0 17
Clinical Genomics Lab,St. Jude Children's Research Hospital 1 0 15 0 0 0 0 0 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
Department of Medical Genetics, University Hospital of North Norway 0 0 7 6 1 0 0 0 14
GenomeConnect, ClinGen 0 0 0 0 0 0 0 13 13
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
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
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
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 3 1 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
Department of Molecular Diagnostics,Institute of Oncology 0 4 0 0 0 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
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
Cancer Variant Interpretation Group UK,Institute of Cancer Research, London 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
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
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
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: 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
Lab of Molecular Oncology,Sapienza University of Rome 1 0 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

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