Variant · Indel
VHL V166Dfs*9 (c.480_481insCGATGCCTCCAGGT)
CI-VAR-00004470Explore in graph →CIViC 3089
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
- 26796762
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease2unmapped disease | ||||||||
| VHL V166Dfs*9 (c.480_481insCGATGCCTCCAGGT) | (predisposing) | Predisposing | C | N/A N/A | 3 | submitted | EID8393Of 38 PPGL (pheochromocytoma and paraganglioma) cases studied, one was associated with an individual carrying the germline mutation ENST00000256474.2:c.480_481insCGATGCCTCCAGGT (ENSP00000256474.2:p.Va… (full text at CIViC) PMID 26796762 · Flynn et al., 2016 · Open in CIViC | civic |
| VHL V166Dfs*9 (c.480_481insCGATGCCTCCAGGT) | (predisposing) | Predisposing | C | Supports Predisposition | 3 | submitted | EID10495A cohort of 36 PCCs and four functional PGL tumours were analysed by exome-seq and high-density SNP-array analysis using tumor paired blood. This specified germline VHL mutation (tumor ID: VCB-PH-04T)… (full text at CIViC) PMID 25545346 · Flynn et al., 2015 · 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