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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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000033707OMIM
no assertion criteria provided
Pathogenic
(Feb 9, 2002) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 7, 2023