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
3351 407 5003 2405 990 3 1 302 10419

Condition and significance breakdown #

Total conditions: 59
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Breast-ovarian cancer, familial 2 2950 144 1707 1070 813 0 0 25 6025
Hereditary cancer-predisposing syndrome 1006 97 2645 1552 269 0 0 0 5207
Hereditary breast and ovarian cancer syndrome 1097 164 2046 902 244 0 0 3 4247
not provided 718 73 1344 266 114 0 0 5 2387
not specified 20 1 773 897 250 0 0 86 1676
Familial cancer of breast 86 4 1 0 62 0 0 187 339
Breast and/or ovarian cancer 62 12 87 47 29 0 0 0 229
Neoplasm of the breast 49 1 76 17 0 0 0 0 142
Fanconi anemia 0 0 29 77 17 0 0 0 123
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
Breast-ovarian cancer, familial 1 18 0 0 0 0 0 0 0 18
Fanconi anemia, complementation group D1 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
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
Breast carcinoma 2 0 0 1 3 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
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
Large Cell/Anaplastic Medulloblastoma 0 0 2 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
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
Diffuse intrinsic pontine glioma 1 0 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
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
Rhabdomyosarcoma 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

Submitter and significance breakdown #

Total submitters: 111
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Ambry Genetics 834 71 1980 984 156 0 0 0 4025
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 2637 0 4 738 633 0 0 0 4012
Invitae 721 43 1929 798 230 0 0 3 3724
Color 466 33 1234 895 192 0 0 0 2820
GeneDx 628 36 789 702 151 0 0 0 2306
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 1699 0 0 0 0 0 0 0 1699
Sharing Clinical Reports Project (SCRP) 520 21 584 145 192 0 0 0 1462
Integrated Genetics/Laboratory Corporation of America 270 91 769 141 93 0 0 0 1364
Quest Diagnostics Nichols Institute San Juan Capistrano 347 41 513 152 22 0 0 0 1064
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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 53 1 34 50 100 0 0 0 238
Michigan Medical Genetics Laboratories,University of Michigan 48 2 34 32 91 0 0 0 207
Mendelics 58 13 122 8 1 0 0 0 202
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 67 0 8 50 75 0 0 0 200
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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 20 1 51 23 63 0 0 0 158
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 34 7 48 40 22 0 0 0 151
Genome Diagnostics Laboratory,University Medical Center Utrecht 24 2 3 55 60 0 0 0 144
Illumina Clinical Services Laboratory,Illumina 5 1 29 91 18 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 64 0 29 12 17 0 0 0 122
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 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/Human Development Section,National Institutes of Health 3 0 28 9 11 0 0 0 51
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 Medical Center 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 11 16 0 0 0 0 30
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
Division Human Genetics,Medical University Innsbruck 21 2 0 0 0 0 0 0 23
Genomic Research Center,Shahid Beheshti University of Medical Sciences 5 1 6 1 2 0 0 4 18
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
Clinical Genomics Lab,St. Jude Children's Research Hospital 1 0 15 0 0 0 0 0 16
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
GenomeConnect, ClinGen 0 0 0 0 0 0 0 9 9
HudsonAlpha Institute for Biotechnology 7 1 0 0 0 0 0 0 8
Gharavi Laboratory,Columbia University 8 0 0 0 0 0 0 0 8
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 7 0 0 0 7
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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 3 2 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
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 3 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
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
Institute of Human Genetics,University of Wuerzburg 2 0 1 0 0 0 0 0 3
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 3 0 0 0 0 3
Department of Molecular Diagnostics,Institute of Oncology 0 3 0 0 0 0 0 0 3
Cancer Variant Interpretation Group UK,Institute of Cancer Research, London 3 0 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
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
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
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
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
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

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