Variant · Snv
VHL Y156* (c.468T>G)
CI-VAR-00004756Explore in graph →NP_000542.1:p.Tyr156TerNM_000551.3:c.468T>GCIViC 1968
Curated evidence
Evidence by cancer (6 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
- 9829912
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease6unmapped disease | ||||||||
| VHL Y156* (c.468T>G) | (predisposing) | Predisposing | C | Supports Predisposition | 3 | accepted | EID5299Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. This mutation was found in a VHL type 1 patient (patient no. V41). This study … (full text at CIViC) PMID 9829912 · Olschwang et al., 1998 · Open in CIViC | civic |
| VHL Y156* (c.468T>G) | (predisposing) | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6105Germline mutation analysis of 469 VHL families reveled 300 mutations. The most common germline mutations were identified between codons 75-82, between codons 157-189 (Elongin binding domain) and at th… (full text at CIViC) PMID 8956040 · Zbar et al., 1996 · Open in 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