PTEN, 1-BP INS, 519T AND Macrocephaly/autism syndrome

Clinical significance:Pathogenic (Last evaluated: Mar 15, 2007)

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:
RCV000008301.4

Allele description [Variation Report for PTEN, 1-BP INS, 519T]

PTEN, 1-BP INS, 519T

Gene:
PTEN:phosphatase and tensin homolog [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
10q23.31
Preferred name:
PTEN, 1-BP INS, 519T
HGVS:
    Note:
    NCBI staff could not confirm the published nucleotide change on the current reference sequence after review of PubMed 17286265.
    Nucleotide change:
    1-BP INS, 519T
    Links:
    OMIM: 601728.0040

    Condition(s)

    Name:
    Macrocephaly/autism syndrome
    Identifiers:
    MedGen: C1854416; Orphanet: 210548; OMIM: 605309
    Age of onset:
    Infancy
    Prevalence:
    <1 / 1 000 000 210548

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000028508OMIMno assertion criteria providedPathogenic
    (Mar 15, 2007)
    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

    Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

    Herman GE, Butter E, Enrile B, Pastore M, Prior TW, Sommer A.

    Am J Med Genet A. 2007 Mar 15;143A(6):589-93.

    PubMed [citation]
    PMID:
    17286265

    Details of each submission

    From OMIM, SCV000028508.3

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

    Description

    In a 27-month-old girl with macrocephaly/autism syndrome (605309), Herman et al. (2007) identified a de novo heterozygous 1-bp insertion (519insT) in exon 6 of the PTEN gene, resulting in a frameshift and premature termination at codon 179.

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

    Last Updated: Apr 21, 2017