Variant · Snv
SF3B1 K666N
CI-VAR-00002167Explore in graph →NP_036565.2:p.Lys666AsnNM_012433.3:c.1998G>TClinVar 219098 CIViC 114 rs377023736
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
- 25424858
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Malignant Breast Neoplasm1 | ||||||||
| SF3B1 K666N | Spliceostatin A | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID1418Mutations in SF3B1 were identified in 21/936 ER positive vs. 1/289 ER negative breast cancers. Mutation was recurrent (K700E in 74% or K666Q or K666E in another 9% of tumors). Treatment of two SF3B1 m… (full text at CIViC) PMID 25424858 · Maguire et al., 2015 · 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
- 2026-09-06
- 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 |
|---|---|---|---|---|---|---|---|---|
| 219098 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Myelodysplastic syndrome progressed to acute myeloid leukemia; Myelodysplastic syndrome | somatic | 2 | Oct 10, 2021 | clinvar |