chr9:133738364:A>T Detail (hg19) (ABL1)

Information

Genome

Assembly Position
hg19 chr9:133,738,364-133,738,364
hg38 chr9:130,862,977-130,862,977 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005157.5:c.764A>T NP_005148.2:p.Glu255Val
NM_007313.2:c.821A>T NP_009297.2:p.Glu274Val
Ensemble ENST00000318560.6:c.764A>T ENST00000318560.6:p.Glu255Val
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 COSM12574 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2015-07-14 no assertion criteria provided chronic myelogenous leukemia, BCR-ABL1 positive somatic Detail
Pathogenic 2019-04-30 no assertion criteria provided Lip and oral cavity carcinoma somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
chronic myeloid leukemia Nilotinib D Predictive Supports Resistance Somatic 3 19075254 Detail
chronic myeloid leukemia Imatinib Mesylate,Nilotinib D Predictive Supports Resistance Somatic 2 16772610 Detail
chronic myeloid leukemia Axitinib D Predictive Supports 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 Supports Reduced Sensitivity Somatic 1 22371878 Detail
chronic myeloid leukemia Dasatinib B Predictive Does Not Support Resistance Somatic 3 19779040 Detail
chronic myeloid leukemia Dasatinib C Predictive Does Not Support Resistance Somatic 3 16775234 Detail
chronic myeloid leukemia Imatinib Mesylate,Nilotinib C Predictive Supports Resistance Somatic 3 19652056 Detail
chronic myeloid leukemia Imatinib Mesylate C Predictive Supports Resistance Somatic 1 22371878 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In an in vitro study, a Ba/F3 cell line stably expressing the E255V mutation in the ABL1 portion of... CIViC Evidence Detail
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
This is a retrospective study of imatinib-resistant (n = 805) or -intolerant (n = 238), chronic myel... CIViC Evidence Detail
Three chronic myeloid leukemia patients had the BCR-ABL1 fusion with the E255V secondary variant in ... CIViC Evidence Detail
In this open-label, phase II registration trial, patients that were imatinib resistant or intolerant... CIViC Evidence Detail
In a study of 39 chronic phase CML patients with BCR-ABL variants, E255V was seen in a single imatin... CIViC Evidence Detail
NM_005157.6(ABL1):c.764A>T (p.Glu255Val) AND Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar Detail
NM_005157.6(ABL1):c.764A>T (p.Glu255Val) AND Lip and oral cavity carcinoma ClinVar 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
rs121913449 dbSNP
Genome
hg19
Position
chr9:133,738,364-133,738,364
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
BCR-ABL E255V
Transcript 1 (CIViC Variant)
ENST00000318560.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1173
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