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GRCh38/hg38 Xq28(chrX:153451351-154230630)x2 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 30, 2011
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:
RCV000140532.6

Allele description [Variation Report for GRCh38/hg38 Xq28(chrX:153451351-154230630)x2]

GRCh38/hg38 Xq28(chrX:153451351-154230630)x2

Genes:
  • LOC130068821:ATAC-STARR-seq lymphoblastoid active region 30033 [Gene]
  • LOC130068822:ATAC-STARR-seq lymphoblastoid active region 30034 [Gene]
  • LOC130068823:ATAC-STARR-seq lymphoblastoid active region 30035 [Gene]
  • LOC130068824:ATAC-STARR-seq lymphoblastoid active region 30036 [Gene]
  • LOC130068832:ATAC-STARR-seq lymphoblastoid active region 30037 [Gene]
  • LOC130068833:ATAC-STARR-seq lymphoblastoid active region 30038 [Gene]
  • LOC130068834:ATAC-STARR-seq lymphoblastoid active region 30039 [Gene]
  • LOC130068836:ATAC-STARR-seq lymphoblastoid active region 30041 [Gene]
  • LOC130068837:ATAC-STARR-seq lymphoblastoid active region 30042 [Gene]
  • LOC130068841:ATAC-STARR-seq lymphoblastoid active region 30043 [Gene]
  • LOC130068842:ATAC-STARR-seq lymphoblastoid active region 30044 [Gene]
  • LOC130068843:ATAC-STARR-seq lymphoblastoid active region 30045 [Gene]
  • LOC130068847:ATAC-STARR-seq lymphoblastoid active region 30047 [Gene]
  • LOC130068848:ATAC-STARR-seq lymphoblastoid active region 30048 [Gene]
  • LOC130068851:ATAC-STARR-seq lymphoblastoid active region 30052 [Gene]
  • LOC130068852:ATAC-STARR-seq lymphoblastoid active region 30053 [Gene]
  • LOC130068825:ATAC-STARR-seq lymphoblastoid silent region 21064 [Gene]
  • LOC130068826:ATAC-STARR-seq lymphoblastoid silent region 21065 [Gene]
  • LOC130068827:ATAC-STARR-seq lymphoblastoid silent region 21066 [Gene]
  • LOC130068828:ATAC-STARR-seq lymphoblastoid silent region 21067 [Gene]
  • LOC130068829:ATAC-STARR-seq lymphoblastoid silent region 21068 [Gene]
  • LOC130068830:ATAC-STARR-seq lymphoblastoid silent region 21069 [Gene]
  • LOC130068831:ATAC-STARR-seq lymphoblastoid silent region 21070 [Gene]
  • LOC130068835:ATAC-STARR-seq lymphoblastoid silent region 21072 [Gene]
  • LOC130068838:ATAC-STARR-seq lymphoblastoid silent region 21073 [Gene]
  • LOC130068839:ATAC-STARR-seq lymphoblastoid silent region 21074 [Gene]
  • LOC130068840:ATAC-STARR-seq lymphoblastoid silent region 21075 [Gene]
  • LOC130068844:ATAC-STARR-seq lymphoblastoid silent region 21077 [Gene]
  • LOC130068845:ATAC-STARR-seq lymphoblastoid silent region 21078 [Gene]
  • LOC130068846:ATAC-STARR-seq lymphoblastoid silent region 21079 [Gene]
  • LOC130068849:ATAC-STARR-seq lymphoblastoid silent region 21080 [Gene]
  • LOC130068850:ATAC-STARR-seq lymphoblastoid silent region 21081 [Gene]
  • LOC130068853:ATAC-STARR-seq lymphoblastoid silent region 21083 [Gene]
  • LOC130068854:ATAC-STARR-seq lymphoblastoid silent region 21085 [Gene]
  • ABCD1:ATP binding cassette subfamily D member 1 [Gene - OMIM - HGNC]
  • ATP2B3:ATPase plasma membrane Ca2+ transporting 3 [Gene - OMIM - HGNC]
  • BCAP31:B cell receptor associated protein 31 [Gene - OMIM - HGNC]
  • LOC116309161:CRISPRi-validated cis-regulatory element chrX.2654 [Gene]
  • LOC116309162:CRISPRi-validated cis-regulatory element chrX.2695 [Gene]
  • HAUS7:HAUS augmin like complex subunit 7 [Gene - OMIM - HGNC]
  • HCFC1-AS1:HCFC1 antisense RNA 1 [Gene - HGNC]
  • LOC111589209:HNF4 motif-containing MPRA enhancer 232 [Gene]
  • L1CAM:L1 cell adhesion molecule [Gene - OMIM - HGNC]
  • L1CAM-AS1:L1CAM antisense RNA 1 [Gene - HGNC]
  • NAA10:N-alpha-acetyltransferase 10, NatA catalytic subunit [Gene - OMIM - HGNC]
  • LOC111365170:NFE2L2 motif-containing MPRA enhancer 190/191 [Gene]
  • PDZD4:PDZ domain containing 4 [Gene - OMIM - HGNC]
  • PLXNB3-AS1:PLXNB3 antisense RNA 1 [Gene - HGNC]
  • ARHGAP4:Rho GTPase activating protein 4 [Gene - OMIM - HGNC]
  • SRPK3:SRSF protein kinase 3 [Gene - OMIM - HGNC]
  • LOC125467793:Sharpr-MPRA regulatory region 3572 [Gene]
  • LOC121853071:Sharpr-MPRA regulatory region 5891 [Gene]
  • LOC113875014:Sharpr-MPRA regulatory region 9358 [Gene]
  • AVPR2:arginine vasopressin receptor 2 [Gene - OMIM - HGNC]
  • BGN:biglycan [Gene - OMIM - HGNC]
  • CCNQ:cyclin Q [Gene - OMIM - HGNC]
  • DUSP9:dual specificity phosphatase 9 [Gene - OMIM - HGNC]
  • HCFC1:host cell factor C1 [Gene - OMIM - HGNC]
  • IRAK1:interleukin 1 receptor associated kinase 1 [Gene - OMIM - HGNC]
  • IDH3G:isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma [Gene - OMIM - HGNC]
  • MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
  • MIR3202-1:microRNA 3202-1 [Gene - HGNC]
  • MIR3202-2:microRNA 3202-2 [Gene - HGNC]
  • MIR718:microRNA 718 [Gene - OMIM - HGNC]
  • OPN1LW:opsin 1, long wave sensitive [Gene - OMIM - HGNC]
  • OPN1MW2:opsin 1, medium wave sensitive 2 [Gene - HGNC]
  • OPN1MW:opsin 1, medium wave sensitive [Gene - OMIM - HGNC]
  • OPSIN-LCR:opsin locus control region [Gene - OMIM]
  • PLXNB3:plexin B3 [Gene - OMIM - HGNC]
  • PNCK:pregnancy up-regulated nonubiquitous CaM kinase [Gene - OMIM - HGNC]
  • RENBP:renin binding protein [Gene - OMIM - HGNC]
  • SSR4:signal sequence receptor subunit 4 [Gene - OMIM - HGNC]
  • SLC6A8:solute carrier family 6 member 8 [Gene - OMIM - HGNC]
  • TMEM187:transmembrane protein 187 [Gene - OMIM - HGNC]
  • LOC105373383:uncharacterized LOC105373383 [Gene]
Variant type:
copy number gain
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
GRCh38/hg38 Xq28(chrX:153451351-154230630)x2
HGVS:
  • NC_000023.11:g.(?_153451351)_(154230630_?)dup
  • NC_000023.10:g.(?_152716809)_(153496099_?)dup
Links:
dbVar: nssv1609831; dbVar: nsv931738
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000181237ISCA Site 6

See additional submitters

no assertion criteria provided
Pathogenic
(Apr 30, 2011) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA Site 6, SCV000181237.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024