Variant · Snv
PIK3CA NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)
CI-VAR-00055752Explore in graph →p.Glu726LysNM_006218.4:c.2176G>AClinVar 376476 rs867262025
Curated evidence
Evidence by cancer (0 items)
Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.
Data not yet available
No curated evidence item references this variant yet.
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 376476 | Pathogenic | reviewed by expert panel | 3 | Inborn genetic diseases; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes; Cowden syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome; PIK3CA related overgrowth syndrome; Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype; Dysembryoplastic neuroepithelial tumor; Neoplasm; PIK3CA-related disorder | germline/somatic | 14 | Feb 12, 2022 | clinvar |