ClinVar Miner

Variants in gene PIK3CA

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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 drug response not provided total
52 78 174 113 17 1 11 406

Condition and significance breakdown #

Total conditions: 78
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Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Cowden syndrome 7 1 145 67 11 0 0 231
not provided 13 7 12 41 0 0 0 73
Neoplasm of the large intestine 13 39 0 0 0 0 0 52
Breast neoplasm 14 37 0 0 0 0 0 51
Malignant neoplasm of body of uterus 0 49 0 0 0 0 0 49
Glioblastoma 0 45 0 0 0 0 0 45
Adenocarcinoma of stomach 0 43 0 0 0 0 0 43
Squamous cell carcinoma of the head and neck 0 42 0 0 0 0 0 42
Neoplasm of uterine cervix 0 37 0 0 0 0 0 37
Squamous cell lung carcinoma 0 30 3 0 0 0 0 33
Transitional cell carcinoma of the bladder 0 32 0 0 0 0 0 32
Neoplasm of brain 0 31 0 0 0 0 0 31
Adenocarcinoma of prostate 0 28 0 0 0 0 0 28
Lung adenocarcinoma 0 27 0 0 0 0 0 27
Uterine Carcinosarcoma 0 22 0 0 0 0 0 22
Hereditary cancer-predisposing syndrome 0 0 8 13 0 0 0 21
Hepatocellular carcinoma 3 17 0 0 0 0 0 18
Malignant melanoma of skin 0 18 0 0 0 0 0 18
Carcinoma of esophagus 0 14 0 0 0 0 0 14
Neoplasm of ovary 10 7 0 0 0 0 0 14
PIK3CA related overgrowth spectrum 11 3 0 0 0 0 0 14
Pancreatic adenocarcinoma 0 14 0 0 0 0 0 14
Cowden syndrome 1 1 1 1 8 2 0 0 13
Brainstem glioma 0 12 0 0 0 0 0 12
Abnormality of cardiovascular system morphology 11 0 0 0 0 0 0 11
Medulloblastoma 0 11 0 0 0 0 0 11
Megalencephaly-capillary malformation-polymicrogyria syndrome 8 3 1 0 0 0 0 11
not specified 0 0 3 3 4 0 3 11
Adenoid cystic carcinoma 0 10 0 0 0 0 0 10
Cowden syndrome 5 8 0 2 0 0 0 0 10
Non-small cell lung cancer 7 3 0 0 0 0 0 10
Papillary renal cell carcinoma, sporadic 0 10 0 0 0 0 0 10
Renal cell carcinoma, papillary, 1 0 10 0 0 0 0 0 10
Small cell lung carcinoma 0 10 0 0 0 0 0 10
Ovarian Serous Cystadenocarcinoma 0 9 0 0 0 0 0 9
Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 5 0 1 0 0 0 0 6
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 4 2 0 0 0 0 0 6
Carcinoma of gallbladder 0 5 0 0 0 0 0 5
Familial cancer of breast 0 1 0 0 0 0 4 5
Inborn genetic diseases 1 1 3 0 0 0 0 5
Nasopharyngeal Neoplasms 0 5 0 0 0 0 0 5
Neoplasm of the thyroid gland 0 5 0 0 0 0 0 5
Adrenocortical carcinoma 0 4 0 0 0 0 0 4
Breast adenocarcinoma 4 0 0 0 0 0 0 4
Carcinoma of colon 4 0 0 0 0 0 0 4
Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Lung carcinoma; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Neoplasm of ovary; Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth; Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma 1 0 2 0 0 0 0 3
Lip and oral cavity carcinoma 3 0 0 0 0 0 0 3
Multiple myeloma 0 3 0 0 0 0 0 3
Neoplasm of stomach 3 0 0 0 0 0 0 3
Neuroblastoma 0 3 0 0 0 0 0 3
Non-Hodgkin lymphoma 0 3 0 0 0 0 0 3
OVARIAN CANCER, EPITHELIAL, SOMATIC 3 0 0 0 0 0 0 3
Endometrial carcinoma 0 1 0 0 0 0 1 2
Epidermal nevus 1 0 1 0 0 0 0 2
MACRODACTYLY, SOMATIC 2 0 0 0 0 0 0 2
Malignant tumor of floor of mouth 0 2 0 0 0 0 0 2
Sarcoma 0 0 0 0 0 0 2 2
Seborrheic keratosis 2 0 0 0 0 0 0 2
none provided 0 0 0 0 2 0 0 2
Colorectal cancer 1 0 0 0 0 0 0 1
Corpus callosum, agenesis of; Seizures; Focal seizures; Heterotopia 0 0 1 0 0 0 0 1
Gallbladder cancer 1 0 0 0 0 0 0 1
Glycogen storage disease, type II 0 1 0 0 0 0 0 1
Head and Neck Neoplasms 0 1 0 0 0 0 0 1
Histone Methylation Therapy response 0 0 0 0 0 1 0 1
Hypertelorism; Megalencephaly; Diaphragmatic eventration; Abnormality of the hairline; Intestinal duplication 1 0 0 0 0 0 0 1
Klippel-Trénaunay syndrome 0 1 0 0 0 0 0 1
Lung carcinoma 0 1 0 0 0 0 0 1
Macrodactyly of toe; Stroke 1 0 0 0 0 0 0 1
Malignant Colorectal Neoplasm 0 1 0 0 0 0 0 1
Malignant tumor of prostate 0 1 0 0 0 0 0 1
Melanoma 0 1 0 0 0 0 0 1
Neoplasm 0 1 0 0 0 0 0 1
Overgrowth; Facial asymmetry; Hemimegalencephaly 0 0 1 0 0 0 0 1
Polycystic kidney disease 0 0 1 0 0 0 0 1
Rosette-forming glioneuronal tumor 1 0 0 0 0 0 0 1
See cases 0 1 0 0 0 0 0 1
Trabecular adenocarcinoma 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Invitae 7 1 145 95 11 0 0 259
Database of Curated Mutations (DoCM) 14 59 0 0 0 0 1 62
OMIM 23 0 0 0 0 0 0 23
Mendelics 1 1 9 8 2 0 0 21
GeneDx 8 5 3 0 0 0 0 16
CeGaT Praxis fuer Humangenetik Tuebingen 6 1 6 3 0 0 0 16
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 8 2 2 1 0 0 0 13
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 13 0 0 0 13
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 6 7 0 0 0 0 0 13
MAGI's Lab - Research,MAGI Group 11 1 0 0 0 0 0 12
Genomics and Pathology Services,Washington University in St.Louis 7 2 0 0 0 0 0 9
Laboratory of Translational Genomics, National Cancer Institute 0 0 0 0 0 0 7 7
PreventionGenetics, PreventionGenetics 0 0 0 2 4 0 0 6
Ambry Genetics 1 1 3 0 0 0 0 5
GeneReviews 5 0 0 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 1 2 0 0 0 0 5
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 2 0 1 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 3 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 0 0 0 0 0 4
Institute of Medical Sciences, Banaras Hindu University 4 0 0 0 0 0 0 4
Faculté Pluridciplinaire Nador,Université Mohamed Premier 0 1 3 0 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 2 0 0 3
Fulgent Genetics,Fulgent Genetics 1 0 2 0 0 0 0 3
ITMI 0 0 0 0 0 0 3 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 1 0 0 0 0 0 1
Institute for Clinical Genetics, TU Dresden 1 0 0 0 0 0 0 1
Prostate Cancer Research Center,Institute of Biosciences and Medical Technology, University of Tampere 0 1 0 0 0 0 0 1
Department of Medical Genetics,University of Szeged 1 0 0 0 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 0 0 1
Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 1 0 1
Precision Medicine Oncology,Rutgers Cancer Institute of New Jersey 0 1 0 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 1
Biesecker Lab Rare Disease,National Institutes of Health 1 0 0 0 0 0 0 1
Center of Human Genetics, Erasme Hospital 1 0 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 0 1
Genomic Center,National Cancer Institute 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Ladle Lab,Johns Hopkins University 0 1 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 1

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