Variant · Indel
VHL E55FS (c.163_164delGA)
CI-VAR-00000789Explore in graph →NP_000542.1:p.Glu55fsENST00000256474.2:c.163_164delGACIViC 764
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.
- 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
- 10408776
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Renal Cell Carcinoma1 | ||||||||
| VHL E55FS (c.163_164delGA) | (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1828In a 54 year old male patient with sporadic renal cell carcinoma, VHL c.163_164delGA causing a p.Glu55 Stop at 130 frameshift mutation was observed. Loss of heterozygosity analysis was non-informative… (full text at CIViC) PMID 10408776 · Gallou et al., 1999 · 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