Variant · Snv
SBF2 NM_030962.4(SBF2):c.777G>A (p.Pro259=)
CI-VAR-00051874Explore in graph →p.Pro259=NM_030962.4:c.777G>AClinVar 301870 rs142261202
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
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 301870 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Charcot-Marie-Tooth disease type 4; Charcot-Marie-Tooth disease; Inborn genetic diseases; Charcot-Marie-Tooth disease type 4B2; Familial cancer of breast | germline | 8 | Nov 11, 2025 | clinvar |