Variant · Snv
AP5Z1 NM_014855.3(AP5Z1):c.481G>A (p.Val161Met)
CI-VAR-00043340Explore in graph →p.Val161MetNM_014855.3:c.481G>AClinVar 240943 rs191971593
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 |
|---|---|---|---|---|---|---|---|---|
| 240943 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Hereditary spastic paraplegia 48; Hereditary spastic paraplegia; AP5Z1-related disorder; Melanoma; Hepatocellular carcinoma; Malignant tumor of esophagus; Clear cell carcinoma of kidney; Lung cancer; Malignant lymphoma, large B-cell, diffuse; Ovarian serous cystadenocarcinoma; Thyroid cancer, nonmedullary, 1; Colon adenocarcinoma; Thymoma | germline | 11 | Jan 15, 2026 | clinvar |