Variant · Snv
PIK3CA D350G
CI-VAR-00000480Explore in graph →NP_006209.2:p.Asp350GlyNM_006218.2:c.1049A>GClinVar 521363 CIViC 1653 rs1553821144
Curated evidence
Evidence by cancer (1 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.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 24265155
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Melanoma1 | ||||||||
| PIK3CA D350G | Vemurafenib | Predictive | D | Supports Resistance | 2 | accepted | EID4784An in vitro study of M229 (a human melanoma cell line) endogenously expressing wildtype PIK3CA and BRAF V600E (a known BRAF inhibitor sensitizing mutation) found that cells virally induced to stably o… (full text at CIViC) PMID 24265155 · Shi et al., 2014 · Open in CIViC | civic |
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 521363 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Inborn genetic diseases; PIK3CA related overgrowth syndrome; Melanoma; Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype | germline/somatic | 4 | Dec 11, 2024 | clinvar |