Variant · Snv
MTHFR A222V
CI-VAR-00000084Explore in graph →NP_005948.3:p.Ala222ValNM_005957.4:c.665C>TClinVar 3520 CIViC 258 rs1801133
Curated evidence
Evidence by cancer (3 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.
- 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
- 18704422
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Malignant Gastric Neoplasm1 | ||||||||
| MTHFR A222V | Fluorouracil | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID669The MTHFR C667T variant was associated with significantly lower relapse-free survival and overall survival in stomach cancer patients treated with 5-Fluorouracil-based therapies. 116 Chinese patients … (full text at CIViC) PMID 18704422 · Huang et al., 2009 · Open in CIViC | civic |
| Prostate Adenocarcinoma1 | ||||||||
| MTHFR A222V | (predisposing) | Predisposing | B | Supports Protectiveness | 4 | accepted | EID1756Study of 1817 prostate adenocarcinoma cases and 2026 cancer free controls to clarify the association of (MTHFR)c.677C>T (and c.1298A>C ) of prostate cancer risk in a population of Han Chinese in Shang… (full text at CIViC) PMID 27819322 · | |
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
- 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 |
|---|---|---|---|---|---|---|---|---|
| 3520 | drug response | reviewed by expert panel | 3 | MTHFR THERMOLABILE POLYMORPHISM; Gastrointestinal stromal tumor; Neural tube defects, folate-sensitive; Homocystinuria due to methylene tetrahydrofolate reductase deficiency; methotrexate response - Toxicity; Thrombophilia due to thrombin defect; Stroke disorder | germline | 24 | Mar 24, 2021 |