U.S. flag

An official website of the United States government

GRCh37/hg19 20q13.33(chr20:62044658-62091058)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 4, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003483369.1

Allele description [Variation Report for GRCh37/hg19 20q13.33(chr20:62044658-62091058)x1]

GRCh37/hg19 20q13.33(chr20:62044658-62091058)x1

Gene:
KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
20q13.33
Genomic location:
Chr20: 62044658 - 62091058 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 20q13.33(chr20:62044658-62091058)x1
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: C3661900

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004230284Quest Diagnostics Nichols Institute San Juan Capistrano
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Pathogenic
    (Jan 4, 2023)     		unknownclinical testing

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

    Citations

    PubMed

    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

    Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

    Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

    PubMed [citation]
    PMID:
    31690835
    PMCID:
    PMC7313390

    Details of each submission

    From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004230284.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing PubMed (1)

    Description

    The 20q13.33 deletion involves an intragenic portion of the KCNQ2 gene (OMIM 602235, NM_172107.4 ). Haploinsufficiency of KCNQ2 has been associated with autosomal dominant seizure disorders including benign familial neonatal seizures-1 (OMIM 121200) and early infantile epileptic encephalopathy-7 (OMIM 613720). Similar intragenic deletions of KCNQ2 gene have been reported in multiple patients (Epilepsia. 2018 May;59(5):1062-1071. PMID: 29655203; J Med Genet. 2007 Dec;44(12):791-6. PMID: 17675531; Epilepsia. 2015 Jul;56(7):1071-80. PMID: 25982755).

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

    Last Updated: Feb 4, 2024