Variant · Other
PIK3CA NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del)
CI-VAR-00170182Explore in graph →p.Glu110delNM_006218.4:c.325GAA[1]ClinVar 995382 rs1724343994
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 |
|---|---|---|---|---|---|---|---|---|
| 995382 | Likely pathogenic | reviewed by expert panel | 3 | PIK3CA related overgrowth syndrome; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes; CLOVES syndrome; Angioosteohypertrophic syndrome; Rare venous malformation; PIK3CA-related disorder; Neoplasm; Embryonal rhabdomyosarcoma; Giant cell glioblastoma; Inborn genetic diseases | germline/somatic | 14 | Jun 06, 2025 | clinvar |