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NM_005157.6(ABL1):c.1052T>C (p.Met351Thr)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Jul 18, 2016)
Last evaluated:
Jul 14, 2015
Accession:
VCV000012629.2
Variation ID:
12629
Description:
single nucleotide variant
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NM_005157.6(ABL1):c.1052T>C (p.Met351Thr)

Allele ID
27668
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.12
Genomic location
9: 130873004 (GRCh38) GRCh38 UCSC
9: 133748391 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.133748391T>C
NC_000009.12:g.130873004T>C
NG_012034.1:g.164124T>C
... more HGVS
Protein change
M351T, M370T
Other names
-
Canonical SPDI
NC_000009.12:130873003:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA122590
OMIM: 189980.0006
dbSNP: rs121913457
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 no assertion criteria provided Jul 14, 2015 RCV000420800.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ABL1 - - GRCh38
GRCh37
101 139

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 01, 2002)
no assertion criteria provided
Method: literature only
CHRONIC MYELOID LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
Allele origin: germline
OMIM
Accession: SCV000033711.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
Chronic myelogenous leukemia, BCR-ABL1 positive
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505091.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (15)
Other databases
http://docm.genome.wustl.edu/var…

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE The Journal of molecular diagnostics : JMD 2014 PMID: 25157968
Detection of BCR-ABL kinase domain mutations in patients with chronic myeloid leukemia on imatinib. Chahardouli B Hematology (Amsterdam, Netherlands) 2013 PMID: 23676790
Contribution of BCR-ABL kinase domain mutations to imatinib mesylate resistance in Philadelphia chromosome positive Malaysian chronic myeloid leukemia patients. Elias MH Hematology reports 2012 PMID: 23355941
Associations between imatinib resistance conferring mutations and Philadelphia positive clonal cytogenetic evolution in CML. Schnittger S Genes, chromosomes & cancer 2010 PMID: 20607847
Rapid clonal shifts in response to kinase inhibitor therapy in chronic myelogenous leukemia are identified by quantitation mutation assays. Yin CC Cancer science 2010 PMID: 20557306
Dynamic change of T315I BCR-ABL kinase domain mutation in Korean chronic myeloid leukaemia patients during treatment with Abl tyrosine kinase inhibitors. Kim WS Hematological oncology 2010 PMID: 19768693
New mutations detected by denaturing high performance liquid chromatography during screening of exon 6 bcr-abl mutations in patients with chronic myeloid leukemia treated with tyrosine kinase inhibitors. Mascarenhas CC Leukemia & lymphoma 2009 PMID: 19557636
Contribution of ABL kinase domain mutations to imatinib resistance in different subsets of Philadelphia-positive patients: by the GIMEMA Working Party on Chronic Myeloid Leukemia. Soverini S Clinical cancer research : an official journal of the American Association for Cancer Research 2006 PMID: 17189410
Evidence of ABL-kinase domain mutations in highly purified primitive stem cell populations of patients with chronic myelogenous leukemia. Sorel N Biochemical and biophysical research communications 2004 PMID: 15381060
High incidence of BCR-ABL kinase domain mutations and absence of mutations of the PDGFR and KIT activation loops in CML patients with secondary resistance to imatinib. Al-Ali HK The hematology journal : the official journal of the European Haematology Association 2004 PMID: 14745431
Mutations in the ABL kinase domain pre-exist the onset of imatinib treatment. Roche-Lestienne C Seminars in hematology 2003 PMID: 12783380
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. Branford S Blood 2003 PMID: 12623848
Molecular and chromosomal mechanisms of resistance to imatinib (STI571) therapy. Hochhaus A Leukemia 2002 PMID: 12399961
Several types of mutations of the Abl gene can be found in chronic myeloid leukemia patients resistant to STI571, and they can pre-exist to the onset of treatment. Roche-Lestienne C Blood 2002 PMID: 12130516
High frequency of point mutations clustered within the adenosine triphosphate-binding region of BCR/ABL in patients with chronic myeloid leukemia or Ph-positive acute lymphoblastic leukemia who develop imatinib (STI571) resistance. Branford S Blood 2002 PMID: 11964322
http://docm.genome.wustl.edu/variants/ENST00000372348:c.1109T>C - - - -

Text-mined citations for rs121913457...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021