ARHGAP26, 74-BP INS AND Juvenile myelomonocytic leukemia

Clinical significance:Pathogenic (Last evaluated: Aug 1, 2000)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000005357.4

Allele description [Variation Report for ARHGAP26, 74-BP INS]

ARHGAP26, 74-BP INS

Gene:
ARHGAP26:Rho GTPase activating protein 26 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
5q31
Preferred name:
ARHGAP26, 74-BP INS
HGVS:
    Nucleotide change:
    74-BP INS
    Links:
    OMIM: 605370.0003

    Condition(s)

    Name:
    Juvenile myelomonocytic leukemia (JMML)
    Synonyms:
    LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC
    Identifiers:
    MONDO: MONDO:0011908; MedGen: C0349639; Orphanet: 86834; OMIM: 607785; Human Phenotype Ontology: HP:0012209

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000025535OMIMno assertion criteria providedPathogenic
    (Aug 1, 2000)
    somaticliterature only

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

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedsomaticnot providednot providednot providednot providednot providednot providedliterature only

    Citations

    PubMed

    The human GRAF gene is fused to MLL in a unique t(5;11)(q31;q23) and both alleles are disrupted in three cases of myelodysplastic syndrome/acute myeloid leukemia with a deletion 5q.

    Borkhardt A, Bojesen S, Haas OA, Fuchs U, Bartelheimer D, Loncarevic IF, Bohle RM, Harbott J, Repp R, Jaeger U, Viehmann S, Henn T, Korth P, Scharr D, Lampert F.

    Proc Natl Acad Sci U S A. 2000 Aug 1;97(16):9168-73.

    PubMed [citation]
    PMID:
    10908648
    PMCID:
    PMC16840

    Details of each submission

    From OMIM, SCV000025535.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature only PubMed (1)

    Description

    In leukemic cells from a patient with juvenile myelomonocytic leukemia (JMML; 607785) and a t(5;11)(q31;q23) involving the N-terminal part of MLL and the C-terminal part of the GRAF gene, Borkhardt et al. (2000) found that the GRAF allele on the other chromosome 5 carried a 74-bp insertion located in the 60-kb long intron between exons 15 and 16. The insertion presumably generated a stop codon. The predicted protein lacked the SH3 domain of GRAF that was shown to be necessary for the interaction with the focal adhesion kinase.

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

    Last Updated: Oct 7, 2021

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