chr9:133747588:G>C Detail (hg19) (ABL1)

Information

Genome

Assembly Position
hg19 chr9:133,747,588-133,747,588
hg38 chr9:130,872,201-130,872,201 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005157.5:c.895G>C NP_005148.2:p.Val299Leu
NM_007313.2:c.952G>C NP_009297.2:p.Val318Leu
Ensemble ENST00000318560.6:c.895G>C ENST00000318560.6:p.Val299Leu
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2014-12-26 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 Nilotinib D Predictive Supports Sensitivity/Response Somatic 3 19075254 Detail
chronic myeloid leukemia Bosutinib C Predictive Supports Reduced Sensitivity Somatic 1 22371878 Detail
chronic myeloid leukemia Dasatinib C Predictive Supports Resistance Somatic 1 19779040 Detail
chronic myeloid leukemia Dasatinib D Predictive Supports Resistance Somatic 3 15705718 Detail
chronic myeloid leukemia Dasatinib,Imatinib Mesylate D Predictive Supports Resistance Somatic 2 16772610 Detail
chronic myeloid leukemia Dasatinib D Predictive Supports Resistance Somatic 2 16772610 Detail
chronic myeloid leukemia Imatinib Mesylate B Predictive Supports Resistance Somatic 1 22371878 Detail
chronic myeloid leukemia Axitinib D Predictive Supports Sensitivity/Response Somatic 2 25686603 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In an in vitro study, a Ba/F3 cell line stably expressing the V299L mutation in the ABL1 portion of ... 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 an in vitro study, stochastic mutations in the ABL1 region of a stably expressed p210 BCR-ABL fus... 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, V299L was seen in two imatinib-re... CIViC Evidence Detail
In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba... CIViC Evidence Detail
NM_005157.6(ABL1):c.895G>C (p.Val299Leu) 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
rs1057519771 dbSNP
Genome
hg19
Position
chr9:133,747,588-133,747,588
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
BCR-ABL V299L
Transcript 1 (CIViC Variant)
ENST00000318560.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1231
Genome browser