Variant · Snv
CDKN2A W110*
CI-VAR-00004667Explore in graph →NP_000068.1:p.Trp110TerNM_000077.4:c.330G>AClinVar 376303 CIViC 1521 rs121913389
Curated evidence
Evidence by cancer (1 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.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 24495407
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Melanoma1 | ||||||||
| CDKN2A W110* | Palbociclib | Predictive | D | Supports Sensitivity Response | — | submitted | EID4523In an in vitro study, a melanoma CHL1 cell line expressing CDKN2A W110* nonsense mutation (endogenous) demonstrated sensitivity to palbociclib treatment (GI50: 192nM). Sensitivity was determined by as… (full text at CIViC) PMID 24495407 · Young et al., 2014 · Open in CIViC | civic |
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
- 2026-09-24
- 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 |
|---|---|---|---|---|---|---|---|---|
| 376303 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Lip and oral cavity carcinoma; Hereditary cancer-predisposing syndrome; Familial melanoma; Melanoma-pancreatic cancer syndrome; Neoplasm; CDKN2A-related disorder | germline/somatic | 7 | Dec 02, 2025 | clinvar |