Variant · Snv
TFR2 NM_003227.4(TFR2):c.1473G>A (p.Glu491=)
CI-VAR-00043332Explore in graph →p.Glu491=NM_003227.4:c.1473G>AClinVar 239513 rs139178017
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 |
|---|---|---|---|---|---|---|---|---|
| 239513 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Hemochromatosis type 3; Hereditary hemochromatosis; TFR2-related disorder; Lymphoma; Ovarian serous cystadenocarcinoma; Uterine carcinosarcoma; Thymoma; Colon adenocarcinoma; Sarcoma; Malignant tumor of urinary bladder; Familial cancer of breast; Uterine corpus endometrial carcinoma; Malignant lymphoma, large B-cell, diffuse; Ovarian cancer; Colorectal cancer; Gastric cancer; Melanoma; Cervical cancer | germline | 8 | Feb 03, 2026 | clinvar |