Variant · Snv
VHL F119S (c.356T>C)
CI-VAR-00001073Explore in graph →NP_000542.1:p.Phe119SerNM_000551.3:c.356T>CCIViC 2119
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
- 23407919
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease2unmapped disease | ||||||||
| VHL F119S (c.356T>C) | (predisposing) | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID5705This study analyzed a cohort of Norweigan pheochromocytoma patients for pathogenic germline variants. Blood samples from 42 patients were successfully analyzed for VHL, RET, SDHB, SDHC, SDHD and NF1. … (full text at CIViC) PMID 23407919 · Sjursen et al., 2013 · Open in CIViC | civic |
| VHL F119S (c.356T>C) | (predisposing) | Predisposing | C | N/A N/A | 3 | submitted | EID856648 patients with sporadic pheochromocytoma were reviewed. One patient was found with bilateral pheochromocytoma when she was 11Y and a germline mutation (F119S) in the VHL gene. The nucleotide change … (full text at CIViC) PMID 8825918 · Eng et al., 1995 · 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