APC, 2-BP INS, CODON 1924 AND Desmoid disease, hereditary

Clinical significance:Pathogenic (Last evaluated: Dec 1, 1996)

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:
RCV000000860.3

Allele description [Variation Report for APC, 2-BP INS, CODON 1924]

APC, 2-BP INS, CODON 1924

Gene:
APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
5q21-q22
Preferred name:
APC, 2-BP INS, CODON 1924
HGVS:
    Note:
    NCBI staff could not confirm the published amino acid change on current reference sequence after review of PubMed 8940264.
    Nucleotide change:
    2-BP INS, CODON 1924
    Links:
    OMIM: 611731.0025

    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
    SCV000021010OMIMno assertion criteria providedPathogenic
    (Dec 1, 1996)
    germlineliterature only

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

    Summary from all submissions

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

    Citations

    PubMed

    Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene.

    Eccles DM, van der Luijt R, Breukel C, Bullman H, Bunyan D, Fisher A, Barber J, du Boulay C, Primrose J, Burn J, Fodde R.

    Am J Hum Genet. 1996 Dec;59(6):1193-201.

    PubMed [citation]
    PMID:
    8940264
    PMCID:
    PMC1914868

    Details of each submission

    From OMIM, SCV000021010.2

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

    Description

    In affected members of a family with hereditary desmoid disease (DESMD; 135290), Eccles et al. (1996) identified a heterozygous 2-bp insertion (AA) at codon 1924 of the APC gene, resulting in a frameshift and premature protein termination. The mutation occurred in the 3-prime end of exon 15.

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

    Last Updated: Oct 7, 2021

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