Variant · Snv
VHL W88* (c.264G>A)
CI-VAR-00004716Explore in graph →NP_000542.1:p.Trp88TerNM_000551.3:c.264G>AClinVar 936684 CIViC 1908 rs869025622
Curated evidence
Evidence by cancer (4 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 Disease4unmapped disease | ||||||||
| VHL W88* (c.264G>A) | (predisposing) | Predisposing | C | Supports Predisposition | 3 | accepted | EID5169Genotype-phenotype correlations of 573 VHL patients were analyzed and confirmed that higher risk of pheochromocytoma is associated with missense mutations that result in substitution of a surface amin… (full text at CIViC) PMID 17024664 · Ong et al., 2007 · Open in CIViC | civic |
| VHL W88* (c.264G>A) | (predisposing) | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID5713A cohort of 183 affected individuals with VHL disease (VHLD) from 81 unrelated pedigrees were examined and analyzed. 124 of 183 patients had ocular angiomas. Neither prevalence of ocular angiomas nor … (full text at CIViC) PMID 10088816 · Webster et al., 1999 · Open in CIViC | |
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 936684 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing syndrome; Tuberous sclerosis 2 | germline | 6 | Aug 06, 2025 | clinvar |