Variant · Deletion
PTEN NM_000314.8(PTEN):c.731del (p.Pro244fs)
CI-VAR-00309291Explore in graph →p.Pro244fsNM_000314.8:c.731delClinVar 2674416 rs2493767037
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 |
|---|---|---|---|---|---|---|---|---|
| 2674416 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Cowden syndrome 1; Macrocephaly-autism syndrome; PTEN hamartoma tumor syndrome | germline | 3 | Apr 24, 2024 | clinvar |