Variant · Snv
PTPN11 NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)
CI-VAR-00006193Explore in graph →p.Tyr279CysNM_002834.5:c.836A>GClinVar 13328 rs121918456
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 |
|---|---|---|---|---|---|---|---|---|
| 13328 | Pathogenic | reviewed by expert panel | 3 | RASopathy; Noonan syndrome with multiple lentigines; LEOPARD syndrome 1; Noonan syndrome 1; CBL-related disorder; Cardiovascular phenotype; Noonan syndrome; Juvenile myelomonocytic leukemia; Metachondromatosis; Noonan syndrome and Noonan-related syndrome; PTPN11-related disorder | germline | 36 | Sep 09, 2025 | clinvar |