KCNH2, IVS3, G-C, +1 AND Long QT syndrome 2

Clinical significance:Pathogenic (Last evaluated: Mar 10, 1995)

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:
RCV000015503.21

Allele description [Variation Report for KCNH2, IVS3, G-C, +1]

KCNH2, IVS3, G-C, +1

Gene:
KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q36.1
Preferred name:
KCNH2, IVS3, G-C, +1
HGVS:
    Nucleotide change:
    IVS3, G-C, +1
    Links:
    OMIM: 152427.0003

    Condition(s)

    Name:
    Long QT syndrome 2 (LQT2)
    Synonyms:
    LONG QT SYNDROME 2, ACQUIRED, REDUCED SUSCEPTIBILITY TO
    Identifiers:
    MedGen: C3150943; Orphanet: 101016; Orphanet: 768; OMIM: 613688
    Prevalence:
    1-5 / 10 000 101016768

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000035768OMIMno assertion criteria providedPathogenic
    (Mar 10, 1995)
    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

    A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.

    Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT.

    Cell. 1995 Mar 10;80(5):795-803.

    PubMed [citation]
    PMID:
    7889573

    Details of each submission

    From OMIM, SCV000035768.1

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

    Description

    In a patient with sporadic LQT (613688), Curran et al. (1995) found that the cause of an aberrant HERG SSCP conformer was a G-to-C substitution converting GT to CT as the first 2 nucleotides of the splice donor sequence of intron 3.

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

    Last Updated: Apr 7, 2017