Variant · Snv
NOTCH1 S2514E
CI-VAR-00004039Explore in graph →CIViC 3676
Curated evidence
Evidence by cancer (1 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.
civicProvenance
- 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
- 17646409
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Unmapped disease1unmapped disease | ||||||||
| NOTCH1 S2514E | (functional) | Functional | D | Does Not Support Gain Of Function | 3 | submitted | EID10046Seven T cell acute lymphoblastic leukemia (T-ALL) cell lines were studied which all constituitively expressed the notch intracellular domain (NICD) but did not contain the expected notch mutations (c-… (full text at CIViC) PMID 17646409 · O'Neil et al., 2007 · Open in CIViC | 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
No ClinVar interpretation attached to this variant.