ABL1 Q252H

CI-VAR-00003527Explore in graph →NP_005148.2:p.Gln252HisNM_005157.5:c.756G>CClinVar 376087 CIViC 4634 rs121913458

Curated evidence

Evidence by cancer (17 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 1–17 of 17 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
Chronic Myeloid Leukemia, BCR-ABL1 Positive15
BCR::ABL1 Fusion AND ABL1 Q252H	Axitinib	Predictive	D	Supports Resistance	2	accepted	EID4323 In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba/F3 cells carrying the BCR-ABL1 variant showed increased incorporation when harboring fusions with t… (full text at CIViC) PMID 25686603 · Pemovska et al., 2015 · Open in CIViC	civic
BCR::ABL1 Fusion AND ABL1 Q252H	Axitinib	Predictive	D	Supports Resistance	2	accepted	EID4324 In an in vitro study, pro-B Ba/F3 cell line expressing Q252H mutation in the ABL1 portion of the BCR-ABL1 fusion protein (overexpression) demonstrated resistance to axitinib treatment (IC50: 967.4nM),… (full text at CIViC) PMID 26582647 · Zabriskie et al., 2016 · Open in CIViC

ClinVar

Clinical significance (0)

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

Data not yet available

No ClinVar interpretation attached to this variant.

Malignant Neoplasm2
BCR::ABL1 Fusion AND ABL1 Q252H	Bafetinib + ImatinibSubstitutes	Predictive	D	Supports Resistance	3	accepted	EID7849 In an in vitro study, a Ba/F3 cell line stably expressing the Q252H mutation in the ABL1 portion of the BCR-ABL1 fusion protein was associated with resistance to imatinib and bafetinib (INNO-406) trea… (full text at CIViC) PMID 18191450 · Deguchi et al., 2008 · Open in CIViC	civic
BCR::ABL1 Fusion AND ABL1 Q252H	Dasatinib + NilotinibSubstitutes	Predictive	D	Does Not Support Resistance	3	accepted	EID2653 In an in vitro study, a Ba/F3 cell line stably expressing the Q252H mutation in the ABL1 portion of the BCR-ABL1 fusion protein was associated with similar sensitivity to dasatinib and nilotinib treat… (full text at CIViC) PMID 18191450 · Deguchi et al., 2008 · Open in CIViC	civic