Variant · Snv
PTEN NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln)
CI-VAR-00024808Explore in graph →p.Pro354GlnNM_000314.8:c.1061C>AClinVar 143020 rs375709098
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 |
|---|---|---|---|---|---|---|---|---|
| 143020 | Likely benign | reviewed by expert panel | 3 | Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor syndrome; Cowden syndrome 1; Malignant tumor of breast; Glioma susceptibility 2; Macrocephaly-autism syndrome; Familial meningioma; Prostate cancer; Breast and/or ovarian cancer; PTEN-related disorder | germline | 24 | Mar 18, 2026 | clinvar |