Variant · Insertion
PTEN NM_000314.8(PTEN):c.679_680insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGCGCGGGGGGGGGGGGGGGTGGGGTGGGGGGGTGGGGGGGGGGGGGGGGGGGGCGGGGGTGAGGGAGAGGGAGAGGGAGAGGGAGAGCAGATATATTCCT (p.Ser227fs)
CI-VAR-00369250Explore in graph →p.Ser227fsNM_000314.8:c.679_680insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGCGCGGGGGGGGGGGGGGGTGGGGTGGGGGGGTGGGGGGGGGGGGGGGGGGGGCGGGGGTGAGGGAGAGGGAGAGGGAGAGGGAGAGCAGATATATTCCTClinVar 3657290
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
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
- 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 |
|---|---|---|---|---|---|---|---|---|
| 3657290 | Pathogenic | criteria provided, single submitter | 1 | PTEN hamartoma tumor syndrome | germline | 1 | Jun 21, 2024 | clinvar |