Variant · Snv
PIK3CA NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr)
CI-VAR-00007938Explore in graph →p.Cys378TyrNM_006218.4:c.1133G>AClinVar 39704 rs397514565
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 |
|---|---|---|---|---|---|---|---|---|
| 39704 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Megalencephaly-capillary malformation-polymicrogyria syndrome; PIK3CA related overgrowth syndrome; Cowden syndrome; PIK3CA-related disorder; Epidermal nevus; Diffuse midline glioma, H3 K27M-mutant | germline/somatic | 11 | May 22, 2025 | clinvar |