Variant · Snv
CYLD NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter)
CI-VAR-00049340Explore in graph →p.Ser371TerNM_001378743.1:c.1112C>AClinVar 267232 rs886040872
Curated evidence
Evidence by cancer (0 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.
Data not yet available
No curated evidence item references this variant yet.
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
clinvarProvenance
- 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 |
|---|---|---|---|---|---|---|---|---|
| 267232 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Familial cylindromatosis; Brooke-Spiegler syndrome; Trichoepithelioma, multiple familial, 1; Frontotemporal dementia and/or amyotrophic lateral sclerosis 8; Multiple monogenic benign skin tumours | germline | 8 | Dec 06, 2025 | clinvar |