ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)

dbSNP: rs121913283
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000155959 SCV000205671 likely pathogenic Non-small cell lung carcinoma 2013-07-19 criteria provided, single submitter clinical testing The Met1043Ile variant has been identified as a somatic change in tumors from mulitple tissues, including endometrium, lung, cervix, urinary tract and large intestine (COSMIC).
Invitae RCV000699681 SCV000828404 pathogenic Cowden syndrome 2021-07-13 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526545 SCV001736970 pathogenic Megalencephaly-capillary malformation-polymicrogyria syndrome criteria provided, single submitter research
Genomics and Pathology Services,Washington University in St.Louis RCV000201237 SCV000255989 pathogenic PIK3CA related overgrowth spectrum 2015-01-20 no assertion criteria provided clinical testing
Database of Curated Mutations (DoCM) RCV000420209 SCV000504931 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430907 SCV000504932 likely pathogenic Neoplasm of brain 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000441596 SCV000504933 likely pathogenic Thyroid tumor 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420901 SCV000504934 likely pathogenic Breast neoplasm 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431600 SCV000504935 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438783 SCV000504936 likely pathogenic Adenoid cystic carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000423694 SCV000504937 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433967 SCV000504938 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442493 SCV000504939 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000426516 SCV000504940 likely pathogenic Pancreatic adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433300 SCV000504941 likely pathogenic Gastric adenocarcinoma 2016-05-31 no assertion criteria provided literature only

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