U.S. flag

An official website of the United States government

GRCh37/hg19 Xq28(chrX:154078238-154563469)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 16, 2020
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:
RCV001260057.2

Allele description [Variation Report for GRCh37/hg19 Xq28(chrX:154078238-154563469)x3]

GRCh37/hg19 Xq28(chrX:154078238-154563469)x3

Genes:
Variant type:
copy number gain
Cytogenetic location:
Xq28
Genomic location:
ChrX: 154078238 - 154563469 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 Xq28(chrX:154078238-154563469)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

    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
    SCV001437027Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    		Pathogenic
    (Sep 16, 2020)     		germlineclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001437027.2

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot provided

    Description

    The copy number gain (duplication) of Xq28 overlaps the int22h1/int22h2-mediated Xq28 duplication syndrome region (OMIM 300815), which is an X-linked intellectual disability syndrome characterized by variable features including cognitive impairment, behavioral and psychiatric problems, recurrent infections and atopic diseases, obesity, and distinctive facial features in males. Female carriers exhibit a milder phenotype (with learning difficulties and distinctive facies) or are clinically unaffected. The cognitive impairment in individuals with the int22h1/int22h2-mediated Xq28 duplication syndrome is likely due to increased dosage of one or more of the encompassed genes; the most likely candidates are CLIC2 (OMIM*300138) and RAB39B (OMIM*300774) (El-Hattab et al., GeneReviews, 2016. PMID: 26962617; El-Hattab et al., BMC Med Genet. 2015 Mar 14;16:12. PMID: 25927380; Isrie et al., Eur J Med Genet. 2012 Nov;55(11):577-85. PMID: 22659343; Vanmarsenille L. Hum Mutat. 2014 Mar;35(3):377-83. PMID: 24357492; https://www.ncbi.nlm.nih.gov/books/NBK349624/).

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

    Last Updated: Apr 23, 2022