ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln) (rs121913287)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224952 SCV001397182 pathogenic Cowden syndrome 2019-05-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 88 of the PIK3CA protein (p.Arg88Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with megalencephaly-capillary malformation syndrome, including (PMID: 22729224, 28941273). In at least one of these individuals, the variant was found to be de novo. ClinVar contains an entry for this variant (Variation ID: 376049). This variant has been reported to have conflicting or insufficient data to determine the effect on PIK3CA protein function (PMID: 22949682). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001562650 SCV001785447 pathogenic not provided 2019-10-11 criteria provided, single submitter clinical testing Identified in a patient with a clinical diagnosis of megalencephaly-capillary malformation with recurrent ketotic hypoglycemia in published literature (McDermott et al., 2018); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 28941273, 22729224)
Database of Curated Mutations (DoCM) RCV000418599 SCV000504908 likely pathogenic Breast neoplasm 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000429274 SCV000504909 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439879 SCV000504910 likely pathogenic Brainstem glioma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422647 SCV000504911 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000429870 SCV000504912 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440543 SCV000504913 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000423359 SCV000504914 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000434047 SCV000504915 likely pathogenic Adenocarcinoma of prostate 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443055 SCV000504916 likely pathogenic Uterine Carcinosarcoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000423992 SCV000504917 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785354 SCV000923922 likely pathogenic Neoplasm of ovary 2018-12-01 no assertion criteria provided research

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