SF3B1 K700E

CI-VAR-00002169Explore in graph →NP_036565.2:p.Lys700GluNM_012433.3:c.2098A>GClinVar 376004 CIViC 565 rs559063155

Curated evidence

Evidence by cancer (2 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.

civicCuratedShowing 1–2 of 2 evidence items across 2 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Leukemia1
SF3B1 K700E	Etoposide + OlaparibSubstitutes	Predictive	D	Supports Sensitivity Response	3	accepted	EID10139 The cancer-associated SF3B1-K700E mutation compromises homologous recombination repair and increases the sensitivity to ionising radiation and DNA damaging agents, such as etoposide or small molecule … (full text at CIViC) PMID 35027467 · Lappin et al., 2022 · Open in CIViC	civic
Malignant Breast Neoplasm1
SF3B1 K700E	Spliceostatin A	Predictive	D	Supports Sensitivity Response	2	accepted	EID1417 Mutations 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…

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
376004	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Chronic myeloid leukemia; SF3B1-related disorder; Myelodysplastic syndrome; Neoplasm	germline/somatic	6	Oct 15, 2025	clinvar