(Q29938513)

English

ABL1 BCR::ABL G250E

genetic variant

G250E
RS121913453
G269E
GLY250GLU
BCR-ABL G250E
BCR-ABL G269E
BCR-ABL GLY250GLU
BCR-ABL1 G250E
BCR-ABL1 GLY250GLU
BCR::ABL G250E

In more languages

default for all languages

No label defined

No description defined

Statements

missense mutation

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1023

transcript fusion

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1023

human chromosome 9

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1023

133738349

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1023

133738349

genomic assembly

Genome assembly GRCh37

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1023

biological variant of

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1023

positive therapeutic predictor for

dasatinib monohydrate

determination method

CIViC evidence level D

CIViC 3-star trust rating

medical condition treated

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/9083

Comparison of imatinib, dasatinib, nilotinib and INNO-406 in imatinib-resistant cell lines

negative therapeutic predictor for

determination method

CIViC evidence level D

CIViC 3-star trust rating

medical condition treated

chronic myeloid leukemia

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/2645

Activity of bosutinib, dasatinib, and nilotinib against 18 imatinib-resistant BCR/ABL mutants

dasatinib monohydrate

determination method

CIViC evidence level B

CIViC 3-star trust rating

medical condition treated

chronic myeloid leukemia

statement disputed by

Dasatinib treatment of chronic-phase chronic myeloid leukemia: analysis of responses according to preexisting BCR-ABL mutations

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/4316

Dasatinib treatment of chronic-phase chronic myeloid leukemia: analysis of responses according to preexisting BCR-ABL mutations

imatinib mesylate

determination method

CIViC evidence level D

CIViC 2-star trust rating

medical condition treated

chronic myeloid leukemia

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/6244

Comparison of imatinib mesylate, dasatinib (BMS-354825), and nilotinib (AMN107) in an N-ethyl-N-nitrosourea (ENU)-based mutagenesis screen: high efficacy of drug combinations

determination method

CIViC evidence level C

CIViC 2-star trust rating

medical condition treated

chronic myeloid leukemia

statement disputed by

Safety and efficacy of bosutinib (SKI-606) in chronic phase Philadelphia chromosome-positive chronic myeloid leukemia patients with resistance or intolerance to imatinib

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/4313

Safety and efficacy of bosutinib (SKI-606) in chronic phase Philadelphia chromosome-positive chronic myeloid leukemia patients with resistance or intolerance to imatinib

determination method

CIViC evidence level C

CIViC 3-star trust rating

medical condition treated

chronic myeloid leukemia

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/6993

Bosutinib is active in chronic phase chronic myeloid leukemia after imatinib and dasatinib and/or nilotinib therapy failure

imatinib mesylate

determination method

CIViC evidence level B

CIViC 1-star trust rating

medical condition treated

chronic myeloid leukemia

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/7041

Dasatinib induces significant hematologic and cytogenetic responses in patients with imatinib-resistant or -intolerant chronic myeloid leukemia in accelerated phase

determination method

CIViC evidence level D

CIViC 2-star trust rating

medical condition treated

chronic myeloid leukemia

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/4320

Axitinib effectively inhibits BCR-ABL1(T315I) with a distinct binding conformation

determination method

CIViC evidence level C

CIViC 2-star trust rating

medical condition treated

chronic myeloid leukemia

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/2646

Detection of BCR-ABL mutations in patients with CML treated with imatinib is virtually always accompanied by clinical resistance, and mutations in the ATP phosphate-binding loop (P-loop) are associated with a poor prognosis

determination method

CIViC evidence level D

CIViC 3-star trust rating

medical condition treated

statement disputed by

Comparison of imatinib, dasatinib, nilotinib and INNO-406 in imatinib-resistant cell lines

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/evidence/2649

Comparison of imatinib, dasatinib, nilotinib and INNO-406 in imatinib-resistant cell lines

Identifiers

CIViC variant ID

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1023

dbSNP Reference SNP number

1 reference

HGVS nomenclature

ENST00000318560.5:c.749G>A

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1023

NC_000009.11:g.133738349G>A

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1023

NP_005148.2:p.Gly250Glu

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1023

NM_005157.5:c.749G>A

1 reference

23 May 2022

https://civic.genome.wustl.edu/links/variants/1023

Sitelinks

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Multilingual sites(0 entries)

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