MSH6, 3-BP DEL, NT3609 AND Turcot syndrome

Clinical significance:Pathogenic (Last evaluated: Dec 1, 2005)

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:
RCV000009495.4

Allele description [Variation Report for MSH6, 3-BP DEL, NT3609]

MSH6, 3-BP DEL, NT3609

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p16
Preferred name:
MSH6, 3-BP DEL, NT3609
HGVS:
    Note:
    NCBI staff could not confirm the published nucleotide change on the current reference sequence after review of PubMed 16283678.
    Nucleotide change:
    3-BP DEL, NT3609
    Links:
    OMIM: 600678.0013

    Condition(s)

    Name:
    Turcot syndrome (MMRCS)
    Synonyms:
    MISMATCH REPAIR CANCER SYNDROME; BRAIN TUMOR-POLYPOSIS SYNDROME 1; BTP1 SYNDROME; See all synonyms [MedGen]
    Identifiers:
    MedGen: C0265325; Orphanet: 252202; OMIM: 276300
    Age of onset:
    Childhood

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000029713OMIMno assertion criteria providedPathogenic
    (Dec 1, 2005)
    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

    Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6.

    Ostergaard JR, Sunde L, Okkels H.

    Am J Med Genet A. 2005 Dec 1;139A(2):96-105; discussion 96.

    PubMed [citation]
    PMID:
    16283678

    Details of each submission

    From OMIM, SCV000029713.2

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

    Description

    For discussion of the 3-bp deletion in the MSH6 gene that was found in compound heterozygous state in 2 sibs with mismatch repair cancer syndrome (MMRCS; 276300) by Ostergaard et al. (2005), see 600678.0012.

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

    Last Updated: Oct 25, 2016