Variant · Snv
VHL T152P (c.454A>C)
CI-VAR-00004276Explore in graph →NP_000542.1:p.Thr152ProNM_000551.4:c.454A>CClinVar 928821 CIViC 3130
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
- 12405390
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease2unmapped disease | ||||||||
| VHL T152P (c.454A>C) | (predisposing) | Predisposing | C | N/A N/A | 3 | submitted | EID856823 CNS hemangioblastoma tumor samples were studied. Blood was available for genetic analysis for 2 tumours belonging to the same patient from the University Medical Center Nijmegen, The Netherlands (t… (full text at CIViC) PMID 12405390 · Gijtenbeek et al., 2002 · Open in CIViC | civic |
| VHL T152P (c.454A>C) | (predisposing) | Predisposing | C | N/A N/A | 3 | submitted | EID8679Between 1994 and 2001, the Dutch VHL working group conducted DNA analysis on 146 probands with VHL-associated manifestations. DNA of probands was extracted from peripheral blood samples. Exons 1, 2 an… (full text at CIViC) PMID 17661816 · Hes et al., 2007 · Open in CIViC | civic |
ClinVar
Clinical significance (0)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
Data not yet available