Variant · Indel
VHL R177SFS*22 (c.531_542delinsTC)
CI-VAR-00003731Explore in graph →CIViC 3355
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
- 29437867
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease2unmapped disease | ||||||||
| VHL R177SFS*22 (c.531_542delinsTC) | (predisposing) | Predisposing | C | N/A N/A | 3 | submitted | EID935020 vHL families were retrospectively identified in SickKids Genetics and Cancer Genetics Program SHIRE genetics database, with data entered between 30 August 1984 and 8 August 2016. Family 2 had 2 mem… (full text at CIViC) PMID 29437867 · Aronoff et al., 2018 · Open in CIViC | civic |
| VHL R177SFS*22 (c.531_542delinsTC) | (predisposing) | Predisposing | C | Supports Predisposition | 3 | submitted | EID1030020 vHL families were retrospectively identified in SickKids Genetics and Cancer Genetics Program SHIRE genetics database, with data entered between 30 August 1984 and 8 August 2016. Family 2 had 2 mem… (full text at CIViC) PMID 29437867 · Aronoff et al., 2018 · 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