Variant · Indel
VHL N174FS*29 (c.519insAA)
CI-VAR-00002884Explore in graph →CIViC 3759
Curated evidence
Evidence by cancer (1 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.
civicProvenance
- 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
- 21528239
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease1unmapped disease | ||||||||
| VHL N174FS*29 (c.519insAA) | (predisposing) | Predisposing | C | Supports Predisposition | 3 | submitted | EID10213Two Swedish families with von Hippel-Lindau disease (VHL) were analyzed. Family B consists of 4 members across 2 generations. Patient I:1 (proband) is a female with renal cell carcinoma and cerebellar… (full text at CIViC) PMID 21528239 · Wiklund et al., 1997 · Open in CIViC | 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
No ClinVar interpretation attached to this variant.