chr9:130862970:T>C Detail (hg38) (ABL1)

Information

Genome

Assembly Position
hg19 chr9:133,738,357-133,738,357 View the variant detail on this assembly version.
hg38 chr9:130,862,970-130,862,970

HGVS

Type Transcript Protein
RefSeq NM_005157.5:c.757T>C NP_005148.2:p.Tyr253His
NM_007313.2:c.814T>C NP_009297.2:p.Tyr272His
Ensemble ENST00000318560.6:c.757T>C ENST00000318560.6:p.Tyr253His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 189980 OMIM
HGNC 76 HGNC
Ensembl ENSG00000097007 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM12576 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2002-02-09 no assertion criteria provided Leukemia, Philadelphia chromosome-positive, resistant to imatinib germline Detail
Likely pathogenic 2015-07-14 no assertion criteria provided chronic myelogenous leukemia, BCR-ABL1 positive somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Lymphoblastic leukemia, acute, with lymphomatous features somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
chronic myeloid leukemia Nilotinib,Imatinib Mesylate D Predictive Supports Resistance Somatic 3 16772610 Detail
chronic myeloid leukemia Axitinib D Predictive Does Not Support Resistance Somatic 2 25686603 Detail
chronic myeloid leukemia Bosutinib C Predictive Does Not Support Resistance Somatic 2 21865346 Detail
chronic myeloid leukemia Bosutinib C Predictive Does Not Support Resistance Somatic 3 22371878 Detail
chronic myeloid leukemia Dasatinib C Predictive Does Not Support Resistance Somatic 1 17264298 Detail
chronic myeloid leukemia Dasatinib B Predictive Does Not Support Resistance Somatic 3 19779040 Detail
chronic myeloid leukemia Imatinib Mesylate,Nilotinib C Predictive Supports Resistance Somatic 3 19652056 Detail
chronic myeloid leukemia Imatinib Mesylate,Nilotinib D Predictive Supports Resistance Somatic 2 16772610 Detail
chronic myeloid leukemia Imatinib Mesylate C Predictive Supports Resistance Somatic 3 22371878 Detail
chronic myeloid leukemia Imatinib Mesylate B Predictive Supports Resistance Somatic 1 17264298 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.033 Blast Phase Molecular or pharmacologic interference with SK-1/S1P2 restored PP2A-dependent B... BeFree 21527515 Detail
<0.001 Blast Phase Molecular or pharmacologic interference with SK-1/S1P2 restored PP2A-dependent B... BeFree 21527515 Detail
0.005 Blast Phase Molecular or pharmacologic interference with SK-1/S1P2 restored PP2A-dependent B... BeFree 21527515 Detail
<0.001 Blast Phase Molecular or pharmacologic interference with SK-1/S1P2 restored PP2A-dependent B... BeFree 21527515 Detail
<0.001 Blast Phase Molecular or pharmacologic interference with SK-1/S1P2 restored PP2A-dependent B... BeFree 21527515 Detail
Annotation

Annotations

DescrptionSourceLinks
In an in vitro study, a Ba/F3-p210BCR-ABL1 cell line was ENU-mutated and exposed to graded concentra... CIViC Evidence Detail
In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba... CIViC Evidence Detail
In this retrospective study, imatinib-resistant or -intolerant patients, with chronic phase CML and ... CIViC Evidence Detail
This was a retrospective study of dasatinib and/or nilotinib-resistant or -intolerant patients pretr... CIViC Evidence Detail
In this phase II multinational study, 60 imatinib-resistant patients with accelerated phase CML and ... CIViC Evidence Detail
This is a retrospective study of imatinib-resistant (n = 805) or -intolerant (n = 238), chronic myel... CIViC Evidence Detail
In this open-label, phase II registration trial, patients that were imatinib resistant or intolerant... CIViC Evidence Detail
In an in vitro study, stochastic mutations were introduced into the ABL1 region of a stably expresse... CIViC Evidence Detail
In a study of 39 chronic phase CML patients with BCR-ABL variants, Y253H was seen in 6 imatinib-resi... CIViC Evidence Detail
In a phase II study of 60 imatinib-resistant patients with BCR-ABL mutations, 6 had Y253H mutations CIViC Evidence Detail
NM_005157.6(ABL1):c.757T>C (p.Tyr253His) AND Leukemia, Philadelphia chromosome-positive, resistant t... ClinVar Detail
NM_005157.6(ABL1):c.757T>C (p.Tyr253His) AND Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar Detail
NM_005157.6(ABL1):c.757T>C (p.Tyr253His) AND Lymphoblastic leukemia, acute, with lymphomatous featur... ClinVar Detail
Molecular or pharmacologic interference with SK-1/S1P2 restored PP2A-dependent Bcr-Abl1 dephosphoryl... DisGeNET Detail
Molecular or pharmacologic interference with SK-1/S1P2 restored PP2A-dependent Bcr-Abl1 dephosphoryl... DisGeNET Detail
Molecular or pharmacologic interference with SK-1/S1P2 restored PP2A-dependent Bcr-Abl1 dephosphoryl... DisGeNET Detail
Molecular or pharmacologic interference with SK-1/S1P2 restored PP2A-dependent Bcr-Abl1 dephosphoryl... DisGeNET Detail
Molecular or pharmacologic interference with SK-1/S1P2 restored PP2A-dependent Bcr-Abl1 dephosphoryl... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs121913461 dbSNP
Genome
hg38
Position
chr9:130,862,970-130,862,970
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
BCR-ABL Y253H
Transcript 1 (CIViC Variant)
ENST00000318560.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1025
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