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GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 31, 2015
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:
RCV000512291.3

Allele description [Variation Report for GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3]

GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3

Genes:
  • ADAMTS15:ADAM metallopeptidase with thrombospondin type 1 motif 15 [Gene - OMIM - HGNC]
  • ADAMTS8:ADAM metallopeptidase with thrombospondin type 1 motif 8 [Gene - OMIM - HGNC]
  • ABCG4:ATP binding cassette subfamily G member 4 [Gene - OMIM - HGNC]
  • ATP5MG:ATP synthase membrane subunit g [Gene - OMIM - HGNC]
  • BACE1-AS:BACE1 antisense RNA [Gene - OMIM - HGNC]
  • BARX2:BARX homeobox 2 [Gene - OMIM - HGNC]
  • BCL9L:BCL9 like [Gene - OMIM - HGNC]
  • BLID:BH3-like motif containing, cell death inducer [Gene - OMIM - HGNC]
  • CXCR5:C-X-C motif chemokine receptor 5 [Gene - OMIM - HGNC]
  • C1QTNF5:C1q and TNF related 5 [Gene - OMIM - HGNC]
  • C2CD2L:C2CD2 like [Gene - OMIM - HGNC]
  • CD3D:CD3 delta subunit of T-cell receptor complex [Gene - OMIM - HGNC]
  • CD3E:CD3 epsilon subunit of T-cell receptor complex [Gene - OMIM - HGNC]
  • CD3G:CD3 gamma subunit of T-cell receptor complex [Gene - OMIM - HGNC]
  • CLMP:CXADR like membrane protein [Gene - OMIM - HGNC]
  • CBL:Cbl proto-oncogene [Gene - OMIM - HGNC]
  • DDX25:DEAD-box helicase 25 [Gene - OMIM - HGNC]
  • DDX6:DEAD-box helicase 6 [Gene - OMIM - HGNC]
  • DSCAML1:DS cell adhesion molecule like 1 [Gene - OMIM - HGNC]
  • EI24:EI24 autophagy associated transmembrane protein [Gene - OMIM - HGNC]
  • ETS1:ETS proto-oncogene 1, transcription factor [Gene - OMIM - HGNC]
  • FOXRED1:FAD dependent oxidoreductase domain containing 1 [Gene - OMIM - HGNC]
  • FXYD2:FXYD domain containing ion transport regulator 2 [Gene - OMIM - HGNC]
  • FXYD6:FXYD domain containing ion transport regulator 6 [Gene - OMIM - HGNC]
  • FXYD6-FXYD2:FXYD6-FXYD2 readthrough [Gene - HGNC]
  • FLI1:Fli-1 proto-oncogene, ETS transcription factor [Gene - OMIM - HGNC]
  • GRAMD1B:GRAM domain containing 1B [Gene - OMIM - HGNC]
  • H2AX:H2A.X variant histone [Gene - OMIM - HGNC]
  • HYLS1:HYLS1 centriolar and ciliogenesis associated [Gene - OMIM - HGNC]
  • KCNJ5-AS1:KCNJ5 antisense RNA 1 [Gene - HGNC]
  • MSANTD2:Myb/SANT DNA binding domain containing 2 [Gene - HGNC]
  • NHERF4:NHERF family PDZ scaffold protein 4 [Gene - OMIM - HGNC]
  • NLRX1:NLR family member X1 [Gene - OMIM - HGNC]
  • PKNOX2:PBX/knotted 1 homeobox 2 [Gene - OMIM - HGNC]
  • POU2F3:POU class 2 homeobox 3 [Gene - OMIM - HGNC]
  • PRDM10:PR/SET domain 10 [Gene - OMIM - HGNC]
  • RPUSD4:RNA pseudouridine synthase D4 [Gene - OMIM - HGNC]
  • ARHGAP32:Rho GTPase activating protein 32 [Gene - OMIM - HGNC]
  • ARHGEF12:Rho guanine nucleotide exchange factor 12 [Gene - OMIM - HGNC]
  • SIDT2:SID1 transmembrane family member 2 [Gene - OMIM - HGNC]
  • SIK3:SIK family kinase 3 [Gene - OMIM - HGNC]
  • SRPRA:SRP receptor subunit alpha [Gene - OMIM - HGNC]
  • ST14:ST14 transmembrane serine protease matriptase [Gene - OMIM - HGNC]
  • ST3GAL4:ST3 beta-galactoside alpha-2,3-sialyltransferase 4 [Gene - OMIM - HGNC]
  • STT3A:STT3 oligosaccharyltransferase complex catalytic subunit A [Gene - OMIM - HGNC]
  • TIRAP:TIR domain containing adaptor protein [Gene - OMIM - HGNC]
  • TLCD5:TLC domain containing 5 [Gene - HGNC]
  • THY1:Thy-1 cell surface antigen [Gene - OMIM - HGNC]
  • VSIG2:V-set and immunoglobulin domain containing 2 [Gene - OMIM - HGNC]
  • VPS11:VPS11 core subunit of CORVET and HOPS complexes [Gene - OMIM - HGNC]
  • VPS26B:VPS26 retromer complex component B [Gene - OMIM - HGNC]
  • ACRV1:acrosomal vesicle protein 1 [Gene - OMIM - HGNC]
  • ACAD8:acyl-CoA dehydrogenase family member 8 [Gene - OMIM - HGNC]
  • APLP2:amyloid beta precursor like protein 2 [Gene - OMIM - HGNC]
  • APOA1:apolipoprotein A1 [Gene - OMIM - HGNC]
  • APOA4:apolipoprotein A4 [Gene - OMIM - HGNC]
  • APOC3:apolipoprotein C3 [Gene - OMIM - HGNC]
  • ARCN1:archain 1 [Gene - OMIM - HGNC]
  • B3GAT1:beta-1,3-glucuronyltransferase 1 [Gene - OMIM - HGNC]
  • BACE1:beta-secretase 1 [Gene - OMIM - HGNC]
  • BSX:brain specific homeobox [Gene - OMIM - HGNC]
  • CDON:cell adhesion associated, oncogene regulated [Gene - OMIM - HGNC]
  • CENATAC:centrosomal AT-AC splicing factor [Gene - OMIM - HGNC]
  • CEP164:centrosomal protein 164 [Gene - OMIM - HGNC]
  • CHEK1:checkpoint kinase 1 [Gene - OMIM - HGNC]
  • CCDC15:coiled-coil domain containing 15 [Gene - HGNC]
  • CRTAM:cytotoxic and regulatory T cell molecule [Gene - OMIM - HGNC]
  • DCPS:decapping enzyme, scavenger [Gene - OMIM - HGNC]
  • DPAGT1:dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 [Gene - OMIM - HGNC]
  • DRC12:dynein regulatory complex subunit 12 homolog [Gene - HGNC]
  • ESAM:endothelial cell adhesion molecule [Gene - OMIM - HGNC]
  • FAM118B:family with sequence similarity 118 member B [Gene - OMIM - HGNC]
  • FEZ1:fasciculation and elongation protein zeta 1 [Gene - OMIM - HGNC]
  • FOXR1:forkhead box R1 [Gene - OMIM - HGNC]
  • GLB1L2:galactosidase beta 1 like 2 [Gene - HGNC]
  • GLB1L3:galactosidase beta 1 like 3 [Gene - HGNC]
  • GRIK4:glutamate ionotropic receptor kainate type subunit 4 [Gene - OMIM - HGNC]
  • HSPA8:heat shock protein family A (Hsp70) member 8 [Gene - OMIM - HGNC]
  • HEPACAM:hepatic and glial cell adhesion molecule [Gene - OMIM - HGNC]
  • HEPN1:hepatocellular carcinoma, down-regulated 1 [Gene - OMIM - HGNC]
  • HINFP:histone H4 transcription factor [Gene - OMIM - HGNC]
  • HMBS:hydroxymethylbilane synthase [Gene - OMIM - HGNC]
  • HYOU1:hypoxia up-regulated 1 [Gene - OMIM - HGNC]
  • IGSF9B:immunoglobulin superfamily member 9B [Gene - OMIM - HGNC]
  • IL10RA:interleukin 10 receptor subunit alpha [Gene - OMIM - HGNC]
  • IFT46:intraflagellar transport 46 [Gene - OMIM - HGNC]
  • JAML:junction adhesion molecule like [Gene - OMIM - HGNC]
  • JAM3:junctional adhesion molecule 3 [Gene - OMIM - HGNC]
  • JHY:junctional cadherin complex regulator [Gene - OMIM - HGNC]
  • KIRREL3:kirre like nephrin family adhesion molecule 3 [Gene - OMIM - HGNC]
  • LINC02714:long intergenic non-protein coding RNA 2714 [Gene - HGNC]
  • LINC02743:long intergenic non-protein coding RNA 2743 [Gene - HGNC]
  • LINC02873:long intergenic non-protein coding RNA 2873 [Gene - HGNC]
  • KMT2A:lysine methyltransferase 2A [Gene - OMIM - HGNC]
  • MCAM:melanoma cell adhesion molecule [Gene - OMIM - HGNC]
  • MFRP:membrane frizzled-related protein [Gene - OMIM - HGNC]
  • MIR100:microRNA 100 [Gene - OMIM - HGNC]
  • MIR125B1:microRNA 125b-1 [Gene - OMIM - HGNC]
  • MIRLET7A2:microRNA let-7a-2 [Gene - OMIM - HGNC]
  • MPZL2:myelin protein zero like 2 [Gene - OMIM - HGNC]
  • MPZL3:myelin protein zero like 3 [Gene - OMIM - HGNC]
  • NECTIN1:nectin cell adhesion molecule 1 [Gene - OMIM - HGNC]
  • NRGN:neurogranin [Gene - OMIM - HGNC]
  • NTM:neurotrimin [Gene - OMIM - HGNC]
  • NCAPD3:non-SMC condensin II complex subunit D3 [Gene - OMIM - HGNC]
  • NFRKB:nuclear factor related to kappaB binding protein [Gene - OMIM - HGNC]
  • OR10G4:olfactory receptor family 10 subfamily G member 4 [Gene - HGNC]
  • OR10G7:olfactory receptor family 10 subfamily G member 7 [Gene - HGNC]
  • OR10G8:olfactory receptor family 10 subfamily G member 8 [Gene - HGNC]
  • OR10G9:olfactory receptor family 10 subfamily G member 9 [Gene - HGNC]
  • OR10S1:olfactory receptor family 10 subfamily S member 1 [Gene - HGNC]
  • OR4D5:olfactory receptor family 4 subfamily D member 5 [Gene - HGNC]
  • OR6M1:olfactory receptor family 6 subfamily M member 1 [Gene - HGNC]
  • OR6T1:olfactory receptor family 6 subfamily T member 1 [Gene - HGNC]
  • OR6X1:olfactory receptor family 6 subfamily X member 1 [Gene - HGNC]
  • OR8A1:olfactory receptor family 8 subfamily A member 1 [Gene - HGNC]
  • OR8B12:olfactory receptor family 8 subfamily B member 12 [Gene - HGNC]
  • OR8B2:olfactory receptor family 8 subfamily B member 2 [Gene - HGNC]
  • OR8B3:olfactory receptor family 8 subfamily B member 3 [Gene - HGNC]
  • OR8B4:olfactory receptor family 8 subfamily B member 4 [Gene - HGNC]
  • OR8B8:olfactory receptor family 8 subfamily B member 8 [Gene - HGNC]
  • OR8D1:olfactory receptor family 8 subfamily D member 1 [Gene - HGNC]
  • OR8D2:olfactory receptor family 8 subfamily D member 2 [Gene - HGNC]
  • OR8D4:olfactory receptor family 8 subfamily D member 4 [Gene - HGNC]
  • OR8G1:olfactory receptor family 8 subfamily G member 1 [Gene - HGNC]
  • OR8G5:olfactory receptor family 8 subfamily G member 5 [Gene - HGNC]
  • OPCML:opioid binding protein/cell adhesion molecule like [Gene - OMIM - HGNC]
  • OAF:out at first homolog [Gene - HGNC]
  • PANX3:pannexin 3 [Gene - OMIM - HGNC]
  • PAFAH1B2:platelet activating factor acetylhydrolase 1b catalytic subunit 2 [Gene - OMIM - HGNC]
  • PHLDB1:pleckstrin homology like domain family B member 1 [Gene - OMIM - HGNC]
  • KCNJ1:potassium inwardly rectifying channel subfamily J member 1 [Gene - OMIM - HGNC]
  • KCNJ5:potassium inwardly rectifying channel subfamily J member 5 [Gene - OMIM - HGNC]
  • PCSK7:proprotein convertase subtilisin/kexin type 7 [Gene - OMIM - HGNC]
  • PATE1:prostate and testis expressed 1 [Gene - OMIM - HGNC]
  • PATE2:prostate and testis expressed 2 [Gene - HGNC]
  • PATE3:prostate and testis expressed 3 [Gene - HGNC]
  • PATE4:prostate and testis expressed 4 [Gene - HGNC]
  • PUS3:pseudouridine synthase 3 [Gene - OMIM - HGNC]
  • RPS25:ribosomal protein S25 [Gene - OMIM - HGNC]
  • RNF214:ring finger protein 214 [Gene - HGNC]
  • RNF26:ring finger protein 26 [Gene - OMIM - HGNC]
  • ROBO3:roundabout guidance receptor 3 [Gene - OMIM - HGNC]
  • ROBO4:roundabout guidance receptor 4 [Gene - OMIM - HGNC]
  • SIAE:sialic acid acetylesterase [Gene - OMIM - HGNC]
  • SCN2B:sodium voltage-gated channel beta subunit 2 [Gene - OMIM - HGNC]
  • SCN3B:sodium voltage-gated channel beta subunit 3 [Gene - OMIM - HGNC]
  • SCN4B:sodium voltage-gated channel beta subunit 4 [Gene - OMIM - HGNC]
  • SLC37A2:solute carrier family 37 member 2 [Gene - OMIM - HGNC]
  • SLC37A4:solute carrier family 37 member 4 [Gene - OMIM - HGNC]
  • SORL1:sortilin related receptor 1 [Gene - OMIM - HGNC]
  • SNX19:sorting nexin 19 [Gene - HGNC]
  • SPA17:sperm autoantigenic protein 17 [Gene - OMIM - HGNC]
  • SPATA19:spermatogenesis associated 19 [Gene - OMIM - HGNC]
  • SC5D:sterol-C5-desaturase [Gene - OMIM - HGNC]
  • TECTA:tectorin alpha [Gene - OMIM - HGNC]
  • TTC36:tetratricopeptide repeat domain 36 [Gene - OMIM - HGNC]
  • THYN1:thymocyte nuclear protein 1 [Gene - OMIM - HGNC]
  • TRAPPC4:trafficking protein particle complex subunit 4 [Gene - OMIM - HGNC]
  • TBRG1:transforming growth factor beta regulator 1 [Gene - OMIM - HGNC]
  • TAGLN:transgelin [Gene - OMIM - HGNC]
  • TMEM218:transmembrane protein 218 [Gene - OMIM - HGNC]
  • TMEM225:transmembrane protein 225 [Gene - HGNC]
  • TMEM25:transmembrane protein 25 [Gene - OMIM - HGNC]
  • TMEM45B:transmembrane protein 45B [Gene - HGNC]
  • TMPRSS13:transmembrane serine protease 13 [Gene - OMIM - HGNC]
  • TMPRSS4:transmembrane serine protease 4 [Gene - OMIM - HGNC]
  • TREH:trehalase [Gene - OMIM - HGNC]
  • TRIM29:tripartite motif containing 29 [Gene - OMIM - HGNC]
  • TBCEL:tubulin folding cofactor E like [Gene - OMIM - HGNC]
  • TP53AIP1:tumor protein p53 regulated apoptosis inducing protein 1 [Gene - OMIM - HGNC]
  • UBASH3B:ubiquitin associated and SH3 domain containing B [Gene - OMIM - HGNC]
  • USP2:ubiquitin specific peptidase 2 [Gene - OMIM - HGNC]
  • UBE4A:ubiquitination factor E4A [Gene - OMIM - HGNC]
  • LOC101929473:uncharacterized LOC101929473 [Gene]
  • UPK2:uroplakin 2 [Gene - OMIM - HGNC]
  • VWA5A:von Willebrand factor A domain containing 5A [Gene - OMIM - HGNC]
  • ZBTB44:zinc finger and BTB domain containing 44 [Gene - HGNC]
  • ZNF202:zinc finger protein 202 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
11q23.3-25
Genomic location:
Chr11: 116681007 - 134938470 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3
HGVS:
    Links:
    dbVar: nssv13648369; dbVar: nssv13650218; dbVar: nsv2769040
    Observations:
    2

    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
    SCV000584339ISCA site 1

    See additional submitters

    no assertion criteria provided
    		Pathogenic
    (Mar 31, 2015)     		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
    humannot 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 1, SCV000584339.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testing PubMed (1)
    2human1not providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providedDiscovery1not providednot providednot provided
    2unknownyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: Sep 1, 2024