Variant · Snv
PTEN NM_000314.8(PTEN):c.1041C>T (p.Phe347=)
CI-VAR-00097316Explore in graph →p.Phe347=NM_000314.8:c.1041C>TClinVar 536565 rs1554826029
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 |
|---|---|---|---|---|---|---|---|---|
| 536565 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | PTEN hamartoma tumor syndrome; Hereditary cancer-predisposing syndrome; Macrocephaly-autism syndrome; Glioma susceptibility 2; Familial prostate cancer; Familial meningioma; Cowden syndrome 1 | germline | 4 | Feb 13, 2025 | clinvar |