Variant · Snv
DNMT3A NM_022552.5(DNMT3A):c.120G>A (p.Glu40=)
CI-VAR-00125427Explore in graph →p.Glu40=NM_022552.5:c.120G>AClinVar 707468 rs202118149
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 |
|---|---|---|---|---|---|---|---|---|
| 707468 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Tatton-Brown-Rahman overgrowth syndrome; Heyn-Sproul-Jackson syndrome; Acute myeloid leukemia; DNMT3A-related disorder | germline | 4 | Feb 03, 2026 | clinvar |