Variant · Snv
GTF2E2 NM_002095.6(GTF2E2):c.548A>G (p.Lys183Arg)
CI-VAR-00127539Explore in graph →p.Lys183ArgNM_002095.6:c.548A>GClinVar 715909 rs2978277
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
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 715909 | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | GTF2E2-related disorder; Uterine corpus endometrial carcinoma; Familial pancreatic carcinoma; Gastric cancer; Ovarian serous cystadenocarcinoma; Malignant tumor of esophagus; Cervical cancer; Thyroid cancer, nonmedullary, 1; Melanoma; Chronic lymphocytic leukemia/small lymphocytic lymphoma; Lymphoma; Cholangiocarcinoma; Acute myeloid leukemia; Uterine carcinosarcoma; Hepatocellular carcinoma; Lung cancer; Malignant lymphoma, large B-cell, diffuse; Colon adenocarcinoma; Colorectal cancer; Sarcoma; Familial cancer of breast; Ovarian cancer | germline | 4 | Jun 01, 2026 | clinvar |