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GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 21, 2019
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:
RCV001537899.4

Allele description [Variation Report for GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2]

GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2

Genes:
Variant type:
copy number gain
Cytogenetic location:
Xp11.23-11.22
Genomic location:
ChrX: 47179068 - 54424785 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV001754827Illumina Laboratory Services, Illumina
    criteria provided, single submitter

    (ICSL CNVClassificationCriteria Jul2020Prior)    		Pathogenic
    (Jun 21, 2019)     		unknownclinical testing

    PubMed (4)
    [See all records that cite these PMIDs]

    Citation Link

    Help

    Summary from all submissions

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

    Citations

    PubMed

    Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.

    Giorda R, Bonaglia MC, Beri S, Fichera M, Novara F, Magini P, Urquhart J, Sharkey FH, Zucca C, Grasso R, Marelli S, Castiglia L, Di Benedetto D, Musumeci SA, Vitello GA, Failla P, Reitano S, Avola E, Bisulli F, Tinuper P, Mastrangelo M, Fiocchi I, et al.

    Am J Hum Genet. 2009 Sep;85(3):394-400. doi: 10.1016/j.ajhg.2009.08.001. Epub 2009 Aug 27. Erratum in: Am J Hum Genet. 2009 Sep;85(3):419.

    PubMed [citation]
    PMID:
    19716111
    PMCID:
    PMC2771536

    A copy number variation morbidity map of developmental delay.

    Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, et al.

    Nat Genet. 2011 Aug 14;43(9):838-46. doi: 10.1038/ng.909. Erratum in: Nat Genet. 2014 Sep;46(9):1040.

    PubMed [citation]
    PMID:
    21841781
    PMCID:
    PMC3171215
    See all PubMed Citations (4)

    Details of each submission

    From Illumina Laboratory Services, Illumina, SCV001754827.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing PubMed (4)

    Description

    This CNV is a 7.2 Mb duplication on the X chromosome at Xp11.23-p11.22, (seq[GRCh37]dup(X)(Xp11.23p11.22); chrX:g.47179068_54424785dup), and was found in a de novo state. This event encompasses 122 genes and is consistent with a diagnosis of Xp11.23-p11.22 microduplication syndrome, which has been described in at least 35 individuals (Giorda et al. 2009; Nizon et al. 2015). This event is larger than and fully encompasses the recurrent 4.5 Mb Xp11.23-p11.22 gain and is similar to other larger, unique events described in this region (Nizon et al. 2015). Gains similar to this CNV have not been reported in controls (Cooper et al. 2011; MacDonald et al. 2014). Based on the collective evidence, this CNV is classified as pathogenic.

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

    Last Updated: Apr 9, 2023