Variant · Snv
VHL E52K (c.154G>A)
CI-VAR-00000765Explore in graph →NP_000542.1:p.Glu52LysNM_000551.3:c.154G>AClinVar 161402 CIViC 1734 rs373068386
Curated evidence
Evidence by cancer (3 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
- 12202531
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease3unmapped disease | ||||||||
| VHL E52K (c.154G>A) | (predisposing) | Predisposing | C | Supports Predisposition | 4 | accepted | EID4896A study of 103 patients with VHL retinal manifestations and 108 patients without VHL retinal manifestations revealed that the number of hemangioblastomas appeared higher in patients who had a substitu… (full text at CIViC) PMID 12202531 · Dollfus et al., 2002 · Open in CIViC | civic |
| VHL E52K (c.154G>A) | (predisposing) | Predisposing | C | Supports Predisposition | 2 | accepted | EID5272Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This missense mutation was found in a VHL type 1 patient (patient no. V285). N… (full text at CIViC) PMID 9829912 · Olschwang et al., 1998 · Open in 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 |
|---|---|---|---|---|---|---|---|---|
| 161402 | Benign | reviewed by expert panel | 3 | Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome; Hepatoblastoma; Enchondromatosis; VHL-related disorder | germline | 18 | Jun 25, 2024 | clinvar |