ABL1 Y253H

CI-VAR-00004793Explore in graph →NP_005148.2:p.Tyr253HisNM_005157.5:c.757T>CClinVar 12627 CIViC 4529 rs121913461

Curated evidence

Evidence by cancer (19 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 1–19 of 19 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
Acute Lymphoblastic Leukemia1
BCR::ABL1 Fusion AND ABL1 Y253H	Dasatinib	Predictive	C	Does Not Support Resistance	3	accepted	EID7947 Prior to dasatinib treatment, one imatinib-resistant patient with acute lymphoblastic leukemia had the BCR-ABL1 fusion with Y253H and Y253H/Q252R variants in 9/10 and 1/10 clones, respectively. Clones… (full text at CIViC) PMID 16775234 · Talpaz et al., 2006 · Open in CIViC	civic
Chronic Myeloid Leukemia, BCR-ABL1 Positive18
BCR::ABL1 Fusion AND ABL1 T315I AND ABL1 Y253H	Axitinib	Predictive	D	Supports Resistance	2	submitted	EID12309 In an in vitro study, pro-B Ba/F3 cell line expressing a compound mutant of both Y253H and T315I mutations in the ABL1 portion of the BCR-ABL1 fusion protein demonstrated resistance to axitinib treatm… (full text at CIViC)

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
12627	Pathogenic	no assertion criteria provided	0	Leukemia, Philadelphia chromosome-positive, resistant to imatinib	germline	1	Feb 09, 2002	clinvar