Variant · Snv
PTEN NM_000314.8(PTEN):c.209T>C (p.Leu70Pro)
CI-VAR-00005748Explore in graph →p.Leu70ProNM_000314.8:c.209T>CClinVar 7826 rs121909226
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
- 2026-09-06
- 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 |
|---|---|---|---|---|---|---|---|---|
| 7826 | Likely pathogenic | reviewed by expert panel | 3 | Cowden syndrome 1; PTEN hamartoma tumor syndrome; Prostate cancer; Familial meningioma; Glioma susceptibility 2; Macrocephaly-autism syndrome; Hereditary cancer-predisposing syndrome; Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype | germline/somatic | 6 | Dec 05, 2025 | clinvar |