ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp)

dbSNP: rs587777790
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001726000 SCV001962538 pathogenic not provided 2021-08-01 criteria provided, single submitter clinical testing
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV002254279 SCV002525711 pathogenic Angioosteohypertrophic syndrome 2021-02-22 criteria provided, single submitter clinical testing This variant has previously been reported in multiple unrelated individuals with PIK3CA-related segmental overgrowth syndrome (PMID: 28151489, PMID: 23246288, PMID: 26637981). 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). This variant replaces the glycine at position 118 with aspartic acid within the linker region of the PIK3CA protein (UniProt P42336). Experimental studies have demonstrated that the p.Gly118Asp variant results in overactivation of the PI3K/AKT/mTOR pathway (PMID: 23246288).
OMIM RCV000144506 SCV000189825 pathogenic Cowden syndrome 5 2013-01-10 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000437640 SCV000506942 likely pathogenic Prostate adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420426 SCV000506943 likely pathogenic Breast neoplasm 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000424957 SCV000506944 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000435685 SCV000506945 likely pathogenic Thyroid tumor 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000417602 SCV000506946 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428287 SCV000506947 likely pathogenic Pancreatic adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439852 SCV000506948 likely pathogenic Neoplasm of uterine cervix 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000419113 SCV000506949 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428959 SCV000506950 likely pathogenic Neoplasm of brain 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440522 SCV000506951 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422840 SCV000506952 likely pathogenic Gastric adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Yale Center for Mendelian Genomics,Yale University RCV001849317 SCV002106635 pathogenic Keratoacanthoma 2016-06-07 no assertion criteria provided literature only

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