Variant · Snv
VHL T105M (c.314C>T)
CI-VAR-00004256Explore in graph →CIViC 4235
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
- 28006088
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Von Hippel-Lindau Disease2unmapped disease | ||||||||
| VHL R167Q (c.500G>A) AND VHL T105M (c.314C>T) | (predisposing) | Predisposing | C | Supports Predisposition | 1 | submitted | EID10640This paper presents a case report of a 42-year-old woman. Using the TruSeq Amplicon Cancer Panel to sequence the patient's tumor specimen, it was found that the patient had a somatic VHL mutation at … (full text at CIViC) PMID 28006088 · Berger et al., 2017 · Open in CIViC | civic |
| VHL T105M (c.314C>T) | (predisposing) | Predisposing | C | Supports Predisposition | 3 | submitted | EID10823314 Chinese patients with Pheochromocytoma/paraganglioma (PPGL) from Peking Union Medical College Hospital, China, were included in this study for germline profiling. The majority of patients underwen… (full text at CIViC) PMID 33362715 · Ma et al., 2020 · 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