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GRCh37/hg19 Xp11.22(chrX:53557335-53622734)x2 AND Global developmental delay

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 19, 2022
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:
RCV002284258.1

Allele description [Variation Report for GRCh37/hg19 Xp11.22(chrX:53557335-53622734)x2]

GRCh37/hg19 Xp11.22(chrX:53557335-53622734)x2

Genes:
HUWE1:HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
MIR98:microRNA 98 [Gene - OMIM - HGNC]
MIRLET7F2:microRNA let-7f-2 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xp11.22
Genomic location:
ChrX: 53538804 - 53630449 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 Xp11.22(chrX:53557335-53622734)x2
HGVS:
    Links:
    dbVar: 3893768; dbVar: 3902376; dbVar: 4517841; dbVar: 5381720

    Condition(s)

    Name:
    Global developmental delay (DD)
    Identifiers:
    MedGen: C0557874; Human Phenotype Ontology: HP:0001263

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002573642Institute of Human Genetics, University of Goettingen
    no assertion criteria provided
    		Uncertain significance
    (Jun 19, 2022)     		maternalclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From Institute of Human Genetics, University of Goettingen, SCV002573642.1

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

    Last Updated: Oct 8, 2024