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Single allele AND T-cell acute lymphoblastic leukemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 24, 2017
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:
RCV000754715.2

Allele description [Variation Report for Single allele]

Gene:
ABL1:ABL proto-oncogene 1, non-receptor tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
Translocation
Cytogenetic location:
9q34.12
Genomic location:
Chr9: 133709770 - 133709771 (on Assembly GRCh37)

Condition(s)

Name:
T-cell acute lymphoblastic leukemia
Synonyms:
Susceptibility to T-cell acute lymphoblastic leukemia; T-cell acute lymphocytic leukemia, somatic; T-cell acute lymphoblastic leukemias; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0004963; MedGen: C1961099; Human Phenotype Ontology: HP:0006727

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000882548Mayo Clinic Genomics Laboratory, Mayo Clinic
no assertion criteria provided
Pathogenic
(Aug 24, 2017) 		somaticclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Synergistic effects of selective inhibitors targeting the PI3K/AKT/mTOR pathway or NUP214-ABL1 fusion protein in human Acute Lymphoblastic Leukemia.

Simioni C, Ultimo S, Martelli AM, Zauli G, Milani D, McCubrey JA, Capitani S, Neri LM.

Oncotarget. 2016 Nov 29;7(48):79842-79853. doi: 10.18632/oncotarget.13035.

PubMed [citation]
PMID:
27821800
PMCID:
PMC5346755

ABL1 rearrangements in T-cell acute lymphoblastic leukemia.

Hagemeijer A, Graux C.

Genes Chromosomes Cancer. 2010 Apr;49(4):299-308. doi: 10.1002/gcc.20743. Review.

PubMed [citation]
PMID:
20073070

Details of each submission

From Mayo Clinic Genomics Laboratory, Mayo Clinic, SCV000882548.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Results in NUP214-ABL1 fusion, previously described in T-Acute lymphoblastic leukemia, may be responsive to tyrosine kinase inhibitors

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

Last Updated: Sep 16, 2024