Variant · Snv
PTEN NM_000314.8(PTEN):c.737C>T (p.Pro246Leu)
CI-VAR-00024076Explore in graph →p.Pro246LeuNM_000314.8:c.737C>TClinVar 142269 rs587782350
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 |
|---|---|---|---|---|---|---|---|---|
| 142269 | Pathogenic | reviewed by expert panel | 3 | Hereditary cancer-predisposing syndrome; PTEN hamartoma tumor syndrome; Cowden syndrome 1; Breast and/or ovarian cancer; Gastric cancer; Macrocephaly-autism syndrome; Glioma susceptibility 2; Familial prostate cancer; Familial meningioma; PTEN-related disorder | germline | 23 | Oct 18, 2017 | clinvar |