ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)

dbSNP: rs1057519929
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526599 SCV001737028 pathogenic CLOVES syndrome criteria provided, single submitter clinical testing
GeneDx RCV001837893 SCV002098175 pathogenic not provided 2022-02-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28502730, 25915946, 26619011, 23592320, 29549527, 27798902, 21531001, 29493003, 33539671, 34969754, 34779417, 32923889, 24037760, 33503190, 33442366, 30243889, 33105631, 32235312, 22729224, 29575851, 29643510, 34684076, 34736091, 34150029)
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV001837893 SCV002525572 pathogenic not provided 2020-12-29 criteria provided, single submitter clinical testing This variant has previously been reported in multiple unrelated individuals with PIK3CA-related segmental overgrowth syndrome (PMID: 31585106, PMID: 22729224, PMID: 25915946). PIK3CA variants associated with PROS, including this patient's alteration, overlap those reported as oncogenic variants found in multiple tumor types (cBioPortal and NCI's Genomic Data Commons cancer databases). The p.Glu81Lys replaces the glycine at codon 81 with lysine within the PI3K adaptor-binding domain of the protein (UniProt P42336). Experimental studies have demonstrated that the p.Glu81Lys variant causes overactivation of the PI3K/AKT/mTOR pathway (PMID: 25915946).
Database of Curated Mutations (DoCM) RCV000426861 SCV000506921 likely pathogenic Medulloblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000436699 SCV000506922 likely pathogenic Breast neoplasm 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000419439 SCV000506923 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431022 SCV000506924 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438199 SCV000506925 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420013 SCV000506926 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430702 SCV000506927 likely pathogenic Renal cell carcinoma, papillary, 1 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438786 SCV000506928 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418157 SCV000506929 likely pathogenic Neoplasm of uterine cervix 2016-05-31 no assertion criteria provided literature only
MAGI's Lab - Research,MAGI Group RCV001327958 SCV001437634 pathogenic Abnormality of cardiovascular system morphology no assertion criteria provided provider interpretation
Genomics England Pilot Project,Genomics England RCV001542570 SCV001760113 likely pathogenic Megalencephaly-capillary malformation-polymicrogyria syndrome no assertion criteria provided clinical testing

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