chr9:133748415:T>G Detail (hg19) (ABL1)

Information

Genome

Assembly Position
hg19 chr9:133,748,415-133,748,415
hg38 chr9:130,873,028-130,873,028 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005157.5:c.1076T>G NP_005148.2:p.Phe359Cys
NM_007313.2:c.1133T>G NP_009297.2:p.Phe378Cys
Ensemble ENST00000318560.6:c.1076T>G ENST00000318560.6:p.Phe359Cys
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 COSM1732691 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 Imatinib Mesylate,Nilotinib D Predictive Supports Resistance Somatic 2 16772610 Detail
chronic myeloid leukemia Bosutinib C Predictive Does Not Support Resistance Somatic 1 22371878 Detail
chronic myeloid leukemia Dasatinib C Predictive Does Not Support Resistance Somatic 2 17264298 Detail
chronic myeloid leukemia Dasatinib C Predictive Does Not Support Resistance Somatic 3 19779040 Detail
chronic myeloid leukemia Dasatinib C Predictive Does Not Support Resistance Somatic 4 16775234 Detail
chronic myeloid leukemia Imatinib Mesylate,Nilotinib C Predictive Supports Resistance Somatic 3 19652056 Detail
chronic myeloid leukemia Nilotinib,Imatinib Mesylate D Predictive Supports Resistance Somatic 2 16772610 Detail
chronic myeloid leukemia Imatinib Mesylate C Predictive Supports Resistance Somatic 1 22371878 Detail
chronic myeloid leukemia Imatinib Mesylate C Predictive Supports Resistance Somatic 1 17264298 Detail
DisGeNET
[No Data.]
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
This was a retrospective study of dasatinib and/or nilotinib-resistant or -intolerant patients pretr... CIViC Evidence Detail
In this phase II multinational study, patients with accelerated phase CML and BCR-ABL fusions were t... CIViC Evidence Detail
This is a retrospective study of imatinib-resistant (n = 805) or -intolerant (n = 238), chronic myel... CIViC Evidence Detail
Prior to dasatinib treatment, one imatinib-resistant patient with chronic myeloid leukemia in chroni... 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, F359C was seen in two imatinib-re... CIViC Evidence Detail
In a phase II study of 60 imatinib-resistant patients with BCR-ABL mutations, 2 had F359C mutations CIViC Evidence Detail
NM_005157.6(ABL1):c.1076T>G (p.Phe359Cys) 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
rs1057519775 dbSNP
Genome
hg19
Position
chr9:133,748,415-133,748,415
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Variant (CIViC) (CIViC Variant)
BCR-ABL F359C
Transcript 1 (CIViC Variant)
ENST00000318560.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1184
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