Variant · Indel
VHL V166SFS*4 (c.496_506del)
CI-VAR-00004473Explore in graph →CIViC 3362
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
- 31368132
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease2unmapped disease | ||||||||
| VHL V166SFS*4 (c.496_506del) | (predisposing) | Predisposing | B | Supports Predisposition | 3 | submitted | EID9387A cohort of VHL patients from the Greater Toronto Area in Canada were retrospectively reviewed. Patient ID 44 was found with this germline mutation and CNS hemangioblastoma and renal cell carcinoma, W… (full text at CIViC) PMID 31368132 · Salama et al., 2019 · Open in CIViC | civic |
| VHL V166SFS*4 (c.496_506del) | (predisposing) | Predisposing | C | N/A N/A | 3 | submitted | EID937320 vHL families were retrospectively identified in SickKids Genetics and Cancer Genetics Program SHIRE genetics database, with data entered between 30 August 1984 and 8 August 2016. Family 17 was foun… (full text at CIViC) PMID 29437867 · Aronoff et al., 2018 · 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