Total submissions: 17
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001726000 | SCV001962538 | pathogenic | not provided | 2021-08-01 | criteria provided, single submitter | clinical testing | |
Seattle Children's Hospital Molecular Genetics Laboratory, |
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). |
Invitae | RCV002512561 | SCV003525378 | pathogenic | Cowden syndrome | 2022-06-07 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 118 of the PIK3CA protein (p.Gly118Asp). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects PIK3CA function (PMID: 22949682, 23246288). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 156446). This missense change has been observed in individuals with PIK3CA-related overgrowth spectrum (PMID: 23246288, 28151489). |
OMIM | RCV000144506 | SCV000189825 | pathogenic | Cowden syndrome 5 | 2013-01-10 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000437640 | SCV000506942 | likely pathogenic | Prostate adenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000420426 | SCV000506943 | likely pathogenic | Breast neoplasm | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000424957 | SCV000506944 | likely pathogenic | Squamous cell lung carcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000435685 | SCV000506945 | likely pathogenic | Thyroid tumor | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000417602 | SCV000506946 | likely pathogenic | Glioblastoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000428287 | SCV000506947 | likely pathogenic | Pancreatic adenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000439852 | SCV000506948 | likely pathogenic | Neoplasm of uterine cervix | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
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 |
RCV000428959 | SCV000506950 | likely pathogenic | Neoplasm of brain | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000440522 | SCV000506951 | likely pathogenic | Malignant neoplasm of body of uterus | 2016-05-31 | no assertion criteria provided | literature only | |
Database of Curated Mutations |
RCV000422840 | SCV000506952 | likely pathogenic | Gastric adenocarcinoma | 2016-05-31 | no assertion criteria provided | literature only | |
Yale Center for Mendelian Genomics, |
RCV001849317 | SCV002106635 | pathogenic | Keratoacanthoma | 2016-06-07 | no assertion criteria provided | literature only | |
Institute of Tissue Medicine and Pathology, |
RCV002254279 | SCV005038937 | likely pathogenic | Angioosteohypertrophic syndrome | 2024-03-19 | no assertion criteria provided | clinical testing |