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GRCh38/hg38 3p26.3(chr3:1716762-2204464)x3 AND Delayed speech and language development

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 18, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000758089.1

Allele description [Variation Report for GRCh38/hg38 3p26.3(chr3:1716762-2204464)x3]

GRCh38/hg38 3p26.3(chr3:1716762-2204464)x3

Genes:
CNTN4-AS2:CNTN4 antisense RNA 2 [Gene - HGNC]
LOC122889017:Sharpr-MPRA regulatory region 9777 [Gene]
CNTN4:contactin 4 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
3p26.3
Genomic location:
Chr3: 1716762 - 2204464 (on Assembly GRCh38)
Preferred name:
GRCh38/hg38 3p26.3(chr3:1716762-2204464)x3
HGVS:

    Condition(s)

    Name:
    Delayed speech and language development
    Identifiers:
    MedGen: C0454644; Human Phenotype Ontology: HP:0000750

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000886526The Division of Genetics and Genomic Medicine, Washington University School of Medicine
    no assertion criteria provided
    		Uncertain significance
    (Feb 18, 2019)     		unknownclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From The Division of Genetics and Genomic Medicine, Washington University School of Medicine, SCV000886526.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Apr 23, 2022