chr9:133738349:G>A Detail (hg19) (ABL1)

Information

Genome

Assembly Position
hg19 chr9:133,738,349-133,738,349
hg38 chr9:130,862,962-130,862,962 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005157.5:c.749G>A NP_005148.2:p.Gly250Glu
NM_007313.2:c.806G>A NP_009297.2:p.Gly269Glu
Ensemble ENST00000318560.6:c.749G>A ENST00000318560.6:p.Gly250Glu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 COSM12577 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
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
chronic myeloid leukemia Imatinib D Predictive Supports Resistance Somatic 3 19075254 Detail
chronic myeloid leukemia Imatinib C Predictive Supports Resistance Somatic 15930265 Detail
chronic myeloid leukemia Nilotinib D Predictive Supports Resistance Somatic 2 19075254 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 2 22371878 Detail
chronic myeloid leukemia Dasatinib B Predictive Does Not Support Resistance Somatic 3 19779040 Detail
chronic myeloid leukemia Dasatinib C Predictive Supports Reduced Sensitivity Somatic 1 17264298 Detail
chronic myeloid leukemia Axitinib D Predictive Supports Resistance Somatic 2 25686603 Detail
chronic myeloid leukemia Imatinib Mesylate D Predictive Supports Resistance Somatic 2 16772610 Detail
chronic myeloid leukemia Nilotinib D Predictive Supports Resistance Somatic 2 16772610 Detail
chronic myeloid leukemia Imatinib C Predictive Supports Resistance Somatic 3 22371878 Detail
chronic myeloid leukemia Imatinib Mesylate B Predictive Supports Resistance Somatic 1 17264298 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
A panel of 18 mutations representing 85% of known mutations seen in imatinib CML patents were used t... CIViC Evidence Detail
In two cell-based studies, a panel of either 18 or 16 mutations representing 85% of known mutations ... CIViC Evidence Detail
In an in vitro study, a Ba/F3 cell line stably expressing the G250E mutation in the ABL1 portion of ... 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
In this phase II multinational study, patients with accelerated phase CML and BCR-ABL fusions were t... CIViC Evidence Detail
In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba... CIViC Evidence Detail
In an in vitro study, stochastic mutations were introduced into the ABL1 region of a stably expresse... 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, G250E was seen in 6 imatinib-resi... CIViC Evidence Detail
In a phase II study of 60 imatinib-resistant patients with BCR-ABL mutations, 9 had G250E mutations CIViC Evidence Detail
NM_005157.6(ABL1):c.749G>A (p.Gly250Glu) AND Chronic myelogenous leukemia, BCR-ABL1 positive 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
rs121913453 dbSNP
Genome
hg19
Position
chr9:133,738,349-133,738,349
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
BCR-ABL G250E
Transcript 1 (CIViC Variant)
ENST00000318560.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1023
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