Variant · Indel
VHL L140fs (c.417_418delTC)
CI-VAR-00002242Explore in graph →CIViC 1960
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
- 9829912
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease2unmapped disease | ||||||||
| VHL L140fs (c.417_418delTC) | (predisposing) | Predisposing | C | Supports Predisposition | 3 | accepted | EID5279Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found in 96 control cases. ACMG codes as follows. This mutation causes a premature stop codon at amino ac… (full text at CIViC) PMID 9829912 · Olschwang et al., 1998 · Open in CIViC | civic |
| VHL L140fs (c.417_418delTC) | (predisposing) | Predisposing | C | N/A N/A | 3 | submitted | EID9972A study of 103 patients with VHL retinal manifestations and 108 patients without VHL retinal manifestations extracted from the French VHL database revealed that the number of hemangioblastomas appeare… (full text at CIViC) PMID 12202531 · Dollfus et al., 2002 · 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