U.S. flag

An official website of the United States government

GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 5, 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:
RCV000512401.3

Allele description [Variation Report for GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3]

GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3

Genes:
  • OPLAH:5-oxoprolinase, ATP-hydrolysing [Gene - OMIM - HGNC]
  • ASAP1-IT1:ASAP1 intronic transcript 1 [Gene - HGNC]
  • ATAD2:ATPase family AAA domain containing 2 [Gene - OMIM - HGNC]
  • ASAP1:ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 [Gene - OMIM - HGNC]
  • BOP1:BOP1 ribosomal biogenesis factor [Gene - OMIM - HGNC]
  • COMMD5:COMM domain containing 5 [Gene - OMIM - HGNC]
  • CYRIB:CYFIP related Rac1 interactor B [Gene - OMIM - HGNC]
  • DENND3:DENN domain containing 3 [Gene - OMIM - HGNC]
  • DEPTOR:DEP domain containing MTOR interacting protein [Gene - OMIM - HGNC]
  • DSCC1:DNA replication and sister chromatid cohesion 1 [Gene - OMIM - HGNC]
  • TOP1MT:DNA topoisomerase I mitochondrial [Gene - OMIM - HGNC]
  • EFR3A:EFR3 homolog A [Gene - OMIM - HGNC]
  • FBXL6:F-box and leucine rich repeat protein 6 [Gene - OMIM - HGNC]
  • FBXO32:F-box protein 32 [Gene - OMIM - HGNC]
  • GPR20:G protein-coupled receptor 20 [Gene - OMIM - HGNC]
  • GFUS:GDP-L-fucose synthase [Gene - OMIM - HGNC]
  • GLI4:GLI family zinc finger 4 [Gene - OMIM - HGNC]
  • HAS2-AS1:HAS2 antisense RNA 1 [Gene - OMIM - HGNC]
  • HGH1:HGH1 homolog [Gene - OMIM - HGNC]
  • HHLA1:HHLA1 neighbor of OC90 [Gene - OMIM - HGNC]
  • JRK:Jrk helix-turn-helix protein [Gene - OMIM - HGNC]
  • KHDRBS3:KH RNA binding domain containing, signal transduction associated 3 [Gene - OMIM - HGNC]
  • LRATD2:LRAT domain containing 2 [Gene - OMIM - HGNC]
  • LYPD2:LY6/PLAUR domain containing 2 [Gene - HGNC]
  • LY6S-AS1:LY6S antisense RNA 1 [Gene - HGNC]
  • LYNX1:Ly6/neurotoxin 1 [Gene - OMIM - HGNC]
  • MAFA:MAF bZIP transcription factor A [Gene - OMIM - HGNC]
  • MAF1:MAF1 homolog, negative regulator of RNA polymerase III [Gene - OMIM - HGNC]
  • MTBP:MDM2 binding protein [Gene - OMIM - HGNC]
  • MTSS1:MTSS I-BAR domain containing 1 [Gene - OMIM - HGNC]
  • MYC:MYC proto-oncogene, bHLH transcription factor [Gene - OMIM - HGNC]
  • NDRG1:N-myc downstream regulated 1 [Gene - OMIM - HGNC]
  • NTAQ1:N-terminal glutamine amidase 1 [Gene - HGNC]
  • NDUFB9:NADH:ubiquinone oxidoreductase subunit B9 [Gene - OMIM - HGNC]
  • NSMCE2:NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase [Gene - OMIM - HGNC]
  • PHF20L1:PHD finger protein 20 like 1 [Gene - OMIM - HGNC]
  • POU5F1B:POU class 5 homeobox 1B [Gene - OMIM - HGNC]
  • PVT1:Pvt1 oncogene [Gene - OMIM - HGNC]
  • RAD21:RAD21 cohesin complex component [Gene - OMIM - HGNC]
  • RECQL4:RecQ like helicase 4 [Gene - OMIM - HGNC]
  • ARHGAP39:Rho GTPase activating protein 39 [Gene - OMIM - HGNC]
  • SHARPIN:SHANK associated RH domain interactor [Gene - OMIM - HGNC]
  • ST3GAL1:ST3 beta-galactoside alpha-2,3-sialyltransferase 1 [Gene - OMIM - HGNC]
  • SLA:Src like adaptor [Gene - OMIM - HGNC]
  • TAF2:TATA-box binding protein associated factor 2 [Gene - OMIM - HGNC]
  • TBC1D31:TBC1 domain family member 31 [Gene - HGNC]
  • TNFRSF11B:TNF receptor superfamily member 11b [Gene - OMIM - HGNC]
  • TATDN1:TatD DNase domain containing 1 [Gene - OMIM - HGNC]
  • UTP23:UTP23 small subunit processome component [Gene - HGNC]
  • VPS28:VPS28 subunit of ESCRT-I [Gene - OMIM - HGNC]
  • WASHC5:WASH complex subunit 5 [Gene - OMIM - HGNC]
  • ZFP41:ZFP41 zinc finger protein [Gene - HGNC]
  • ZHX1-C8orf76:ZHX1-C8orf76 readthrough [Gene - HGNC]
  • ADCK5:aarF domain containing kinase 5 [Gene - HGNC]
  • ARC:activity regulated cytoskeleton associated protein [Gene - OMIM - HGNC]
  • ADCY8:adenylate cyclase 8 [Gene - OMIM - HGNC]
  • ADGRB1:adhesion G protein-coupled receptor B1 [Gene - OMIM - HGNC]
  • AARD:alanine and arginine rich domain containing protein [Gene - HGNC]
  • ANXA13:annexin A13 [Gene - OMIM - HGNC]
  • AGO2:argonaute RISC catalytic component 2 [Gene - OMIM - HGNC]
  • CCN3:cellular communication network factor 3 [Gene - OMIM - HGNC]
  • CCN4:cellular communication network factor 4 [Gene - OMIM - HGNC]
  • CHRAC1:chromatin accessibility complex subunit 1 [Gene - OMIM - HGNC]
  • C8orf33:chromosome 8 open reading frame 33 [Gene - HGNC]
  • C8orf76:chromosome 8 open reading frame 76 [Gene - HGNC]
  • C8orf82:chromosome 8 open reading frame 82 [Gene - HGNC]
  • C8orf17:chromosome 8 putative open reading frame 17 [Gene - OMIM - HGNC]
  • CPSF1:cleavage and polyadenylation specific factor 1 [Gene - OMIM - HGNC]
  • CCDC166:coiled-coil domain containing 166 [Gene - HGNC]
  • COL14A1:collagen type XIV alpha 1 chain [Gene - OMIM - HGNC]
  • COL22A1:collagen type XXII alpha 1 chain [Gene - OMIM - HGNC]
  • COLEC10:collectin subfamily member 10 [Gene - OMIM - HGNC]
  • CYP11B1:cytochrome P450 family 11 subfamily B member 1 [Gene - OMIM - HGNC]
  • CYP11B2:cytochrome P450 family 11 subfamily B member 2 [Gene - OMIM - HGNC]
  • CYC1:cytochrome c1 [Gene - OMIM - HGNC]
  • DERL1:derlin 1 [Gene - OMIM - HGNC]
  • DGAT1:diacylglycerol O-acyltransferase 1 [Gene - OMIM - HGNC]
  • DNAAF11:dynein axonemal assembly factor 11 [Gene - OMIM - HGNC]
  • ENPP2:ectonucleotide pyrophosphatase/phosphodiesterase 2 [Gene - OMIM - HGNC]
  • EPPK1:epiplakin 1 [Gene - OMIM - HGNC]
  • EEF1D:eukaryotic translation elongation factor 1 delta [Gene - OMIM - HGNC]
  • EIF3H:eukaryotic translation initiation factor 3 subunit H [Gene - OMIM - HGNC]
  • EXOSC4:exosome component 4 [Gene - OMIM - HGNC]
  • EXT1:exostosin glycosyltransferase 1 [Gene - OMIM - HGNC]
  • FAM135B:family with sequence similarity 135 member B [Gene - HGNC]
  • FAM83A:family with sequence similarity 83 member A [Gene - HGNC]
  • FAM83H:family with sequence similarity 83 member H [Gene - OMIM - HGNC]
  • FAM91A1:family with sequence similarity 91 member A1 [Gene - HGNC]
  • FER1L6:fer-1 like family member 6 [Gene - HGNC]
  • FOXH1:forkhead box H1 [Gene - OMIM - HGNC]
  • GSDMC:gasdermin C [Gene - OMIM - HGNC]
  • GSDMD:gasdermin D [Gene - OMIM - HGNC]
  • GRINA:glutamate ionotropic receptor NMDA type subunit associated protein 1 [Gene - OMIM - HGNC]
  • GPT:glutamic--pyruvic transaminase [Gene - OMIM - HGNC]
  • GPAA1:glycosylphosphatidylinositol anchor attachment 1 [Gene - OMIM - HGNC]
  • GPIHBP1:glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 [Gene - OMIM - HGNC]
  • GML:glycosylphosphatidylinositol anchored molecule like [Gene - OMIM - HGNC]
  • HSF1:heat shock transcription factor 1 [Gene - OMIM - HGNC]
  • HAS2:hyaluronan synthase 2 [Gene - OMIM - HGNC]
  • KLHL38:kelch like family member 38 [Gene - HGNC]
  • KIFC2:kinesin family member C2 [Gene - OMIM - HGNC]
  • LRRC14:leucine rich repeat containing 14 [Gene - OMIM - HGNC]
  • LRRC24:leucine rich repeat containing 24 [Gene - OMIM - HGNC]
  • LINC00536:long intergenic non-protein coding RNA 536 [Gene - HGNC]
  • LY6D:lymphocyte antigen 6 family member D [Gene - OMIM - HGNC]
  • LY6E:lymphocyte antigen 6 family member E [Gene - OMIM - HGNC]
  • LY6H:lymphocyte antigen 6 family member H [Gene - OMIM - HGNC]
  • LY6K:lymphocyte antigen 6 family member K [Gene - OMIM - HGNC]
  • MROH1:maestro heat like repeat family member 1 [Gene - HGNC]
  • MROH5:maestro heat like repeat family member 5 (gene/pseudogene) [Gene - HGNC]
  • MROH6:maestro heat like repeat family member 6 [Gene - HGNC]
  • MFSD3:major facilitator superfamily domain containing 3 [Gene - OMIM - HGNC]
  • MAL2:mal, T cell differentiation protein 2 [Gene - OMIM - HGNC]
  • MED30:mediator complex subunit 30 [Gene - OMIM - HGNC]
  • MIR1234:microRNA 1234 [Gene - HGNC]
  • MIR661:microRNA 661 [Gene - OMIM - HGNC]
  • MRPL13:mitochondrial ribosomal protein L13 [Gene - OMIM - HGNC]
  • MAPK15:mitogen-activated protein kinase 15 [Gene - OMIM - HGNC]
  • NAPRT:nicotinate phosphoribosyltransferase [Gene - OMIM - HGNC]
  • NRBP2:nuclear receptor binding protein 2 [Gene - OMIM - HGNC]
  • OC90:otoconin 90 [Gene - OMIM - HGNC]
  • PLEC:plectin [Gene - OMIM - HGNC]
  • PARP10:poly(ADP-ribose) polymerase family member 10 [Gene - OMIM - HGNC]
  • PUF60:poly(U) binding splicing factor 60 [Gene - OMIM - HGNC]
  • KCNK9:potassium two pore domain channel subfamily K member 9 [Gene - OMIM - HGNC]
  • KCNQ3:potassium voltage-gated channel subfamily Q member 3 [Gene - OMIM - HGNC]
  • PCAT1:prostate cancer associated transcript 1 [Gene - OMIM - HGNC]
  • PSCA:prostate stem cell antigen [Gene - OMIM - HGNC]
  • PPP1R16A:protein phosphatase 1 regulatory subunit 16A [Gene - OMIM - HGNC]
  • PTK2:protein tyrosine kinase 2 [Gene - OMIM - HGNC]
  • PTP4A3:protein tyrosine phosphatase 4A3 [Gene - OMIM - HGNC]
  • PYCR3:pyrroline-5-carboxylate reductase 3 [Gene - OMIM - HGNC]
  • RHPN1:rhophilin Rho GTPase binding protein 1 [Gene - OMIM - HGNC]
  • RPL8:ribosomal protein L8 [Gene - OMIM - HGNC]
  • RNF139:ring finger protein 139 [Gene - OMIM - HGNC]
  • SCX:scleraxis bHLH transcription factor [Gene - OMIM - HGNC]
  • SCRT1:scratch family transcriptional repressor 1 [Gene - OMIM - HGNC]
  • SCRIB:scribble planar cell polarity protein [Gene - OMIM - HGNC]
  • SLURP1:secreted LY6/PLAUR domain containing 1 [Gene - OMIM - HGNC]
  • SLC30A8:solute carrier family 30 member 8 [Gene - OMIM - HGNC]
  • SLC39A4:solute carrier family 39 member 4 [Gene - OMIM - HGNC]
  • SLC45A4:solute carrier family 45 member 4 [Gene - OMIM - HGNC]
  • SLC52A2:solute carrier family 52 member 2 [Gene - OMIM - HGNC]
  • SPATC1:spermatogenesis and centriole associated 1 [Gene - OMIM - HGNC]
  • SQLE:squalene epoxidase [Gene - OMIM - HGNC]
  • SAMD12:sterile alpha motif domain containing 12 [Gene - OMIM - HGNC]
  • SNTB1:syntrophin beta 1 [Gene - OMIM - HGNC]
  • TSNARE1:t-SNARE domain containing 1 [Gene - HGNC]
  • TRMT12:tRNA methyltransferase 12 homolog [Gene - OMIM - HGNC]
  • THEM6:thioesterase superfamily member 6 [Gene - HGNC]
  • TG:thyroglobulin [Gene - OMIM - HGNC]
  • TIGD5:tigger transposable element derived 5 [Gene - HGNC]
  • TONSL:tonsoku like, DNA repair protein [Gene - OMIM - HGNC]
  • TRAPPC9:trafficking protein particle complex subunit 9 [Gene - OMIM - HGNC]
  • TRPS1:transcriptional repressor GATA binding 1 [Gene - OMIM - HGNC]
  • TMEM249:transmembrane protein 249 [Gene - HGNC]
  • TMEM65:transmembrane protein 65 [Gene - OMIM - HGNC]
  • TMEM71:transmembrane protein 71 [Gene - OMIM - HGNC]
  • TRIB1:tribbles pseudokinase 1 [Gene - OMIM - HGNC]
  • ZC3H3:zinc finger CCCH-type containing 3 [Gene - OMIM - HGNC]
  • ZFTRAF1:zinc finger TRAF-type containing 1 [Gene - OMIM - HGNC]
  • ZFAT:zinc finger and AT-hook domain containing [Gene - OMIM - HGNC]
  • ZNF16:zinc finger protein 16 [Gene - OMIM - HGNC]
  • ZNF250:zinc finger protein 250 [Gene - HGNC]
  • ZNF251:zinc finger protein 251 [Gene - HGNC]
  • ZNF34:zinc finger protein 34 [Gene - OMIM - HGNC]
  • ZNF517:zinc finger protein 517 [Gene - HGNC]
  • ZNF572:zinc finger protein 572 [Gene - HGNC]
  • ZNF623:zinc finger protein 623 [Gene - HGNC]
  • ZNF696:zinc finger protein 696 [Gene - HGNC]
  • ZNF707:zinc finger protein 707 [Gene - HGNC]
  • ZNF7:zinc finger protein 7 [Gene - OMIM - HGNC]
  • ZHX1:zinc fingers and homeoboxes 1 [Gene - OMIM - HGNC]
  • ZHX2:zinc fingers and homeoboxes 2 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
8q23.3-24.3
Genomic location:
Chr8: 114853126 - 146295771 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3
HGVS:
    Links:
    dbVar: nssv13653784; dbVar: nsv2774617
    Observations:
    1

    Condition(s)

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

    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
    SCV000585367ISCA site 1

    See additional submitters

    no assertion criteria provided
    		Pathogenic
    (Feb 5, 2015)     		unknownclinical testing

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    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, SCV000585367.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1human1not providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: May 7, 2024