Variant · Snv
ARID1B NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter)
CI-VAR-00093038Explore in graph →p.Arg1747TerNM_001374828.1:c.5239C>TClinVar 503753 rs1554236040
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
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 503753 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Coffin-Siris syndrome 1; ARID1B-related BAFopathy; Inborn genetic diseases; Squamous cell carcinoma of the head and neck; Cervical cancer; Medulloblastoma WNT activated; ARID1B-Related Disorder | germline/somatic | 18 | Nov 26, 2025 | clinvar |