Variant · Insertion
PTEN NM_000314.8(PTEN):c.188dup (p.Asn63fs)
CI-VAR-00295381Explore in graph →p.Asn63fsNM_000314.8:c.188dupClinVar 2443989 rs1554897267
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 |
|---|---|---|---|---|---|---|---|---|
| 2443989 | Pathogenic | criteria provided, single submitter | 1 | Macrocephaly-autism syndrome; PTEN hamartoma tumor syndrome | germline | 2 | Aug 22, 2023 | clinvar |