Variant · Snv
VHL G114C (c.340G>T)
CI-VAR-00001574Explore in graph →NP_000542.1:p.Gly114CysNM_000551.3:c.340G>TCIViC 1797
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
- 11505222
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Clear Cell Renal Cell Carcinoma1 | ||||||||
| VHL G114C (c.340G>T) | (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6145This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| Von Hippel-Lindau Disease2unmapped disease | ||||||||
| VHL G114C (c.340G>T) | (predisposing) | Predisposing | C | Supports Uncertain Significance | 3 | accepted | EID4970An investigation of 94 VHL patients without large deletions for intragenic mutations revealed 40 different mutations in 55 unrelated individuals. In all patients with multiple affected family members … (full text at 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