APC, 4-BP DEL, 7929TCTA AND Desmoid disease, hereditary

Clinical significance:Pathogenic (Last evaluated: Mar 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:
RCV000000880.4

Allele description [Variation Report for APC, 4-BP DEL, 7929TCTA]

APC, 4-BP DEL, 7929TCTA

Gene:
APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q21-q22
Preferred name:
APC, 4-BP DEL, 7929TCTA
HGVS:
    Note:
    NCBI staff could not confirm the published nucleotide change on current reference sequence after review of PubMed 10782927.
    Nucleotide change:
    4-BP DEL, 7929TCTA
    Links:
    OMIM: 611731.0045

    Condition(s)

    Name:
    Desmoid disease, hereditary (DESMD)
    Synonyms:
    Fibromatosis, familial infiltrative
    Identifiers:
    MedGen: C1851124; Orphanet: 873; OMIM: 135290

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000021030OMIMno assertion criteria providedPathogenic
    (Mar 1, 2000)
    unknownliterature only

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

    Summary from all submissions

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

    Citations

    PubMed

    A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor.

    Couture J, Mitri A, Lagace R, Smits R, Berk T, Bouchard HL, Fodde R, Alman B, Bapat B.

    Clin Genet. 2000 Mar;57(3):205-12.

    PubMed [citation]
    PMID:
    10782927

    Details of each submission

    From OMIM, SCV000021030.3

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

    Description

    In affected members of a large French Canadian kindred with hereditary desmoid disease (DESMD; 135290), Couture et al. (2000) identified a heterozygous 4-bp deletion (7929delTCTA) at codons 2643-2644 of the APC gene, resulting in a frameshift and premature termination. The mutant APC allele did not express a stable truncated protein in vivo. The phenotype was characterized by the early onset of multiple tumors, arising near the axial skeleton and in proximal extremities. Although penetrance of desmoid tumors was nearly 100%, expression of the disease was variable. Many gene carriers had cutaneous cysts. Polyposis of the colon was rarely observed in the affected individuals and no upper gastrointestinal polyps were documented. In a desmoid tumor from the proband, Couture et al. (2000) identified a somatic 1-bp deletion (3720delT; 611731.0046) in codon 1240 of the APC gene.

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

    Last Updated: Oct 7, 2021

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