Variant · Snv
CDKN2A A20P
CI-VAR-00000081Explore in graph →NP_000068.1:p.Ala20ProNM_000077.4:c.58G>CClinVar 576362 CIViC 1522 rs760065045
Curated evidence
Evidence by cancer (2 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 A20P | Palbociclib | Predictive | D | Supports Sensitivity Response | — | submitted | EID4524In an in vitro study, a melanoma C052 cell line expressing CDKN2A A20P mutation (endogenous) demonstrated sensitivity to palbociclib treatment (GI50: 79nM). Sensitivity was determined by assessing cel… (full text at CIViC) PMID 24495407 · Young et al., 2014 · Open in CIViC | civic |
| Unmapped disease1unmapped disease | ||||||||
| CDKN2A A20P | (functional) | Functional | D | Supports Loss Of Function | 3 | submitted | EID9323Analysis of several CDKN2A variants was performed to discover their functional impact. Both in vitro and in vivo binding assays showed that the A20P mutation resulted in complete loss of binding to CD… (full text at CIViC) PMID 10498896 · | |
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 |
|---|---|---|---|---|---|---|---|---|
| 576362 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Familial melanoma; Hereditary cancer-predisposing syndrome; Melanoma-pancreatic cancer syndrome | germline | 3 | Aug 14, 2025 | clinvar |