Variant · Snv
CDKN2A R87P
CI-VAR-00003920Explore in graph →NP_000068.1:p.Arg87ProNM_000077.4:c.260G>CClinVar 236984 CIViC 3376 rs878853647
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
- 10491434
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Unmapped disease1unmapped disease | ||||||||
| CDKN2A R87P | (functional) | Functional | D | Supports Loss Of Function | 4 | submitted | EID9411Cancer-associated mutations in p16 (CDKN2A) were assessed for their ability to bind cyclin-dependent kinases, inhibit kinase activity, and induce cell-cycle arrest in G1 phase. R87P caused a loss of b… (full text at CIViC) PMID 10491434 · Yarbrough et al., 1999 · 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
- 2026-09-06
- 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 |
|---|---|---|---|---|---|---|---|---|
| 236984 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Familial melanoma; Hereditary cancer-predisposing syndrome; Melanoma, cutaneous malignant, susceptibility to, 2; Melanoma and neural system tumor syndrome | germline | 5 | Jan 21, 2025 | clinvar |