Variant · Indel
VHL G123fs (c.369_375delGACACAC)
CI-VAR-00001591Explore in graph →ENST00000256474.2:c.369_375delGACACACCIViC 2135
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
- 17024664
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease2unmapped disease | ||||||||
| VHL G123fs (c.369_375delGACACAC) | (predisposing) | Predisposing | C | Supports Uncertain Significance | 1 | accepted | EID5732Genotype-phenotype correlations of 573 VHL patients from 200 kindreds were analyzed. Age-related risks of retinal angiomas and renal cell carcinoma were higher in patients with nonsense or frameshift … (full text at CIViC) PMID 17024664 · Ong et al., 2007 · Open in CIViC | civic |
| VHL G123fs (c.369_375delGACACAC) | (predisposing) | Predisposing | C | N/A N/A | 3 | submitted | EID8414Two groups were analyzed for germline VHL mutation where Group 1 (84 individuals) presented with only one hemangioblastoma and no other clinical VHL features and those in Group 2 (4 individuals) prese… (full text at CIViC) PMID 11106358 · Hes et al., 2000 · 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