NM_005157.6(ABL1):c.707A>T (p.Glu236Val) AND Leukemia, Philadelphia chromosome-positive, resistant to imatinib

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 9, 2002
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000013460.22

Allele description [Variation Report for NM_005157.6(ABL1):c.707A>T (p.Glu236Val)]

NM_005157.6(ABL1):c.707A>T (p.Glu236Val)

Gene:

ABL1:ABL proto-oncogene 1, non-receptor tyrosine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.12

Genomic location:

Preferred name:

NM_005157.6(ABL1):c.707A>T (p.Glu236Val)

HGVS:

NC_000009.12:g.130862920A>T
NG_012034.1:g.154040A>T
NM_005157.6:c.707A>TMANE SELECT
NM_007313.3:c.764A>T
NP_005148.2:p.Glu236Val
NP_009297.2:p.Glu255Val
LRG_769t1:c.707A>T
LRG_769t2:c.764A>T
LRG_769:g.154040A>T
LRG_769p1:p.Glu236Val
LRG_769p2:p.Glu255Val
NC_000009.11:g.133738307A>T

Protein change:

E236V; GLU255VAL

Links:

OMIM: 189980.0002; dbSNP: rs387906516

NCBI 1000 Genomes Browser:

rs387906516

Molecular consequence:

NM_005157.6:c.707A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007313.3:c.764A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Leukemia, Philadelphia chromosome-positive, resistant to imatinib
Identifiers:: MedGen: C4016396

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000033707	OMIM	no assertion criteria provided	Pathogenic (Feb 9, 2002)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000033707

OMIM

no assertion criteria provided

Pathogenic
(Feb 9, 2002)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

BCR-ABL gene mutations in relation to clinical resistance of Philadelphia-chromosome-positive leukaemia to STI571: a prospective study.

von Bubnoff N, Schneller F, Peschel C, Duyster J.

Lancet. 2002 Feb 9;359(9305):487-91.

PubMed [citation]

PMID:: 11853795

Details of each submission

From OMIM, SCV000033707.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient with acute lymphoblastic leukemia (see 159555), positive for Philadelphia chromosome and resistant to therapy with imatinib after 34 weeks of treatment, von Bubnoff et al. (2002) identified a 911A-T transversion in the ABL1 gene, resulting in a glu255-to-val (E255V) mutation, which had previously been reported.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 7, 2023

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