Variant · Snv
CPLANE1 NM_001384732.1(CPLANE1):c.8958+4A>C
CI-VAR-00031797Explore in graph →NM_001384732.1:c.8958+4A>CClinVar 197551 rs199810663
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 |
|---|---|---|---|---|---|---|---|---|
| 197551 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Joubert syndrome 17; CPLANE1-related disorder; Colon adenocarcinoma; Sarcoma; Gastric cancer; Ovarian serous cystadenocarcinoma; Intellectual disability; Nonpapillary renal cell carcinoma; Cervical cancer; Familial cancer of breast; Clear cell carcinoma of kidney; Melanoma; Malignant tumor of esophagus; Uveal melanoma; Thymoma; Malignant tumor of urinary bladder | germline | 12 | Jun 01, 2026 | clinvar |