Variant · Snv
CPT2 NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys)
CI-VAR-00006728Explore in graph →p.Phe352CysNM_000098.3:c.1055T>GClinVar 92428 rs2229291
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
- 2026-09-24
- 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 |
|---|---|---|---|---|---|---|---|---|
| 92428 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Carnitine palmitoyltransferase II deficiency; Carnitine palmitoyl transferase II deficiency, neonatal form; Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Encephalopathy, acute, infection-induced, susceptibility to, 4; CPT2-related disorder; Malignant lymphoma, large B-cell, diffuse; Ovarian serous cystadenocarcinoma; Uterine carcinosarcoma; Thymoma; Uterine corpus endometrial carcinoma; Acute myeloid leukemia; Cervical cancer; Lung cancer | germline | 15 | Feb 04, 2026 | clinvar |