Variant · Splice
DPYD DPYD*2A HOMOZYGOSITY
CI-VAR-00000621Explore in graph →NM_000110.3:c.1905+1G>AClinVar 432 CIViC 737 rs3918290
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.
- 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
- 23988873
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Malignant Neoplasm1 | ||||||||
| DPYD DPYD*2A HOMOZYGOSITY | Capecitabine + Fluorouracil + TegafurSubstitutes | Predictive | A | Supports Adverse Response | 5 | accepted | EID1800The Clinical Pharmacogenomics Implementation Consortium Guidelines for DPYD genotype and 5-FU dosing does not recommend the use of 5-FU or capecitabine in patients with homozygous DPYD*2A, *13 or rs67… (full text at CIViC) PMID 23988873 · Caudle et al., 2013 · Open in CIViC | civic |
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 |
|---|---|---|---|---|---|---|---|---|
| 432 | drug response | reviewed by expert panel | 3 | Dihydropyrimidine dehydrogenase deficiency; Fluorouracil response; Hirschsprung disease, susceptibility to, 1; fluorouracil response - Toxicity; fluorouracil response - Other; capecitabine response - Toxicity; tegafur response - Toxicity; Inborn genetic diseases; DPYD-related disorder; Clear cell carcinoma of kidney; Familial pancreatic carcinoma; Colon adenocarcinoma; Colorectal cancer; Familial cancer of breast; Ovarian cancer; Sarcoma; Lymphoma; Gastric cancer; Malignant tumor of esophagus; Lung cancer; Ovarian serous cystadenocarcinoma; Malignant tumor of urinary bladder; Nonpapillary renal cell carcinoma; Cervical cancer; Thyroid cancer, nonmedullary, 1; Melanoma; Cholangiocarcinoma; Acute myeloid leukemia; DPYD-related disorders |