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GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
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:
RCV000446588.4

Allele description [Variation Report for GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3]

GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3

Genes:
  • ADAM18:ADAM metallopeptidase domain 18 [Gene - OMIM - HGNC]
  • ADAM2:ADAM metallopeptidase domain 2 [Gene - OMIM - HGNC]
  • ADAM32:ADAM metallopeptidase domain 32 [Gene - OMIM - HGNC]
  • ADAM9:ADAM metallopeptidase domain 9 [Gene - OMIM - HGNC]
  • ALKAL1:ALK and LTK ligand 1 [Gene - OMIM - HGNC]
  • ASH2L:ASH2 like, histone lysine methyltransferase complex subunit [Gene - OMIM - HGNC]
  • ATP6V1H:ATPase H+ transporting V1 subunit H [Gene - OMIM - HGNC]
  • BAG4:BAG cochaperone 4 [Gene - OMIM - HGNC]
  • BNIP3L:BCL2 interacting protein 3 like [Gene - OMIM - HGNC]
  • BRF2:BRF2 RNA polymerase III transcription initiation factor subunit [Gene - OMIM - HGNC]
  • CEBPD:CCAAT enhancer binding protein delta [Gene - OMIM - HGNC]
  • DDHD2:DDHD domain containing 2 [Gene - OMIM - HGNC]
  • POLB:DNA polymerase beta [Gene - OMIM - HGNC]
  • EBF2:EBF transcription factor 2 [Gene - OMIM - HGNC]
  • ERLIN2:ER lipid raft associated 2 [Gene - OMIM - HGNC]
  • FBXO16:F-box protein 16 [Gene - OMIM - HGNC]
  • GINS4:GINS complex subunit 4 [Gene - OMIM - HGNC]
  • HTRA4:HtrA serine peptidase 4 [Gene - OMIM - HGNC]
  • LSM1:LSM1 homolog, mRNA degradation associated [Gene - OMIM - HGNC]
  • MAK16:MAK16 homolog [Gene - HGNC]
  • NKX6-3:NK6 homeobox 3 [Gene - OMIM - HGNC]
  • PBK:PDZ binding kinase [Gene - OMIM - HGNC]
  • PNMA2:PNMA family member 2 [Gene - OMIM - HGNC]
  • POTEA:POTE ankyrin domain family member A [Gene - OMIM - HGNC]
  • RAB11FIP1:RAB11 family interacting protein 1 [Gene - OMIM - HGNC]
  • RB1CC1:RB1 inducible coiled-coil 1 [Gene - OMIM - HGNC]
  • RBPMS:RNA binding protein, mRNA processing factor [Gene - OMIM - HGNC]
  • RP1:RP1 axonemal microtubule associated [Gene - OMIM - HGNC]
  • SOX17:SRY-box transcription factor 17 [Gene - OMIM - HGNC]
  • ST18:ST18 C2H2C-type zinc finger transcription factor [Gene - OMIM - HGNC]
  • TTI2:TELO2 interacting protein 2 [Gene - OMIM - HGNC]
  • THAP1:THAP domain containing 1 [Gene - OMIM - HGNC]
  • TM2D2:TM2 domain containing 2 [Gene - OMIM - HGNC]
  • UBXN8:UBX domain protein 8 [Gene - OMIM - HGNC]
  • WRN:WRN RecQ like helicase [Gene - OMIM - HGNC]
  • XKR4:XK related 4 [Gene - HGNC]
  • AP3M2:adaptor related protein complex 3 subunit mu 2 [Gene - OMIM - HGNC]
  • ADGRA2:adhesion G protein-coupled receptor A2 [Gene - OMIM - HGNC]
  • ADRA1A:adrenoceptor alpha 1A [Gene - OMIM - HGNC]
  • ADRB3:adrenoceptor beta 3 [Gene - OMIM - HGNC]
  • ANK1:ankyrin 1 [Gene - OMIM - HGNC]
  • CLXN:calaxin [Gene - OMIM - HGNC]
  • CDCA2:cell division cycle associated 2 [Gene - OMIM - HGNC]
  • CHRNA2:cholinergic receptor nicotinic alpha 2 subunit [Gene - OMIM - HGNC]
  • CHRNA6:cholinergic receptor nicotinic alpha 6 subunit [Gene - OMIM - HGNC]
  • CHRNB3:cholinergic receptor nicotinic beta 3 subunit [Gene - OMIM - HGNC]
  • CLU:clusterin [Gene - OMIM - HGNC]
  • CCDC25:coiled-coil domain containing 25 [Gene - OMIM - HGNC]
  • DOCK5:dedicator of cytokinesis 5 [Gene - OMIM - HGNC]
  • DKK4:dickkopf WNT signaling pathway inhibitor 4 [Gene - OMIM - HGNC]
  • DPYSL2:dihydropyrimidinase like 2 [Gene - OMIM - HGNC]
  • DUSP26:dual specificity phosphatase 26 [Gene - OMIM - HGNC]
  • DUSP4:dual specificity phosphatase 4 [Gene - OMIM - HGNC]
  • DCTN6:dynactin subunit 6 [Gene - OMIM - HGNC]
  • ELP3:elongator acetyltransferase complex subunit 3 [Gene - OMIM - HGNC]
  • EPHX2:epoxide hydrolase 2 [Gene - OMIM - HGNC]
  • ESCO2:establishment of sister chromatid cohesion N-acetyltransferase 2 [Gene - OMIM - HGNC]
  • EIF4EBP1:eukaryotic translation initiation factor 4E binding protein 1 [Gene - OMIM - HGNC]
  • EXTL3:exostosin like glycosyltransferase 3 [Gene - OMIM - HGNC]
  • FNTA:farnesyltransferase, CAAX box, subunit alpha [Gene - OMIM - HGNC]
  • FGFR1:fibroblast growth factor receptor 1 [Gene - OMIM - HGNC]
  • FZD3:frizzled class receptor 3 [Gene - OMIM - HGNC]
  • FUT10:fucosyltransferase 10 [Gene - OMIM - HGNC]
  • GTF2E2:general transcription factor IIE subunit 2 [Gene - OMIM - HGNC]
  • GOT1L1:glutamic-oxaloacetic transaminase 1 like 1 [Gene - HGNC]
  • GSR:glutathione-disulfide reductase [Gene - OMIM - HGNC]
  • GPAT4:glycerol-3-phosphate acyltransferase 4 [Gene - OMIM - HGNC]
  • GOLGA7:golgin A7 [Gene - OMIM - HGNC]
  • GNRH1:gonadotropin releasing hormone 1 [Gene - OMIM - HGNC]
  • HGSNAT:heparan-alpha-glucosaminide N-acetyltransferase [Gene - OMIM - HGNC]
  • HMBOX1:homeobox containing 1 [Gene - OMIM - HGNC]
  • HOOK3:hook microtubule tethering protein 3 [Gene - OMIM - HGNC]
  • IDO1:indoleamine 2,3-dioxygenase 1 [Gene - OMIM - HGNC]
  • IDO2:indoleamine 2,3-dioxygenase 2 [Gene - OMIM - HGNC]
  • IKBKB:inhibitor of nuclear factor kappa B kinase subunit beta [Gene - OMIM - HGNC]
  • INTS9:integrator complex subunit 9 [Gene - OMIM - HGNC]
  • KIF13B:kinesin family member 13B [Gene - OMIM - HGNC]
  • LEPROTL1:leptin receptor overlapping transcript like 1 [Gene - OMIM - HGNC]
  • LETM2:leucine zipper and EF-hand containing transmembrane protein 2 [Gene - OMIM - HGNC]
  • LINC00293:long intergenic non-protein coding RNA 293 [Gene - OMIM - HGNC]
  • LINC03042:long intergenic non-protein coding RNA 3042 [Gene - HGNC]
  • KAT6A:lysine acetyltransferase 6A [Gene - OMIM - HGNC]
  • LYPLA1:lysophospholipase 1 [Gene - OMIM - HGNC]
  • MBOAT4:membrane bound O-acyltransferase domain containing 4 [Gene - OMIM - HGNC]
  • MCM4:minichromosome maintenance complex component 4 [Gene - OMIM - HGNC]
  • MRPL15:mitochondrial ribosomal protein L15 [Gene - OMIM - HGNC]
  • NRG1:neuregulin 1 [Gene - OMIM - HGNC]
  • NEFL:neurofilament light chain [Gene - OMIM - HGNC]
  • NEFM:neurofilament medium chain [Gene - OMIM - HGNC]
  • NPBWR1:neuropeptides B and W receptor 1 [Gene - OMIM - HGNC]
  • NUGGC:nuclear GTPase, germinal center associated [Gene - OMIM - HGNC]
  • NSD3:nuclear receptor binding SET domain protein 3 [Gene - OMIM - HGNC]
  • OPRK1:opioid receptor kappa 1 [Gene - OMIM - HGNC]
  • PPDPFL:pancreatic progenitor cell differentiation and proliferation factor like [Gene - HGNC]
  • PXDNL:peroxidasin like [Gene - OMIM - HGNC]
  • PLPP5:phospholipid phosphatase 5 [Gene - OMIM - HGNC]
  • PLAT:plasminogen activator, tissue type [Gene - OMIM - HGNC]
  • PLEKHA2:pleckstrin homology domain containing A2 [Gene - OMIM - HGNC]
  • KCNU1:potassium calcium-activated channel subfamily U member 1 [Gene - OMIM - HGNC]
  • KCTD9:potassium channel tetramerization domain containing 9 [Gene - OMIM - HGNC]
  • PNOC:prepronociceptin [Gene - OMIM - HGNC]
  • POMK:protein O-mannose kinase [Gene - OMIM - HGNC]
  • PRKDC:protein kinase, DNA-activated, catalytic subunit [Gene - OMIM - HGNC]
  • PPP2CB:protein phosphatase 2 catalytic subunit beta [Gene - OMIM - HGNC]
  • PPP2R2A:protein phosphatase 2 regulatory subunit Balpha [Gene - OMIM - HGNC]
  • PTK2B:protein tyrosine kinase 2 beta [Gene - OMIM - HGNC]
  • PCMTD1:protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 [Gene - OMIM - HGNC]
  • PURG:purine rich element binding protein G [Gene - OMIM - HGNC]
  • PLPBP:pyridoxal phosphate binding protein [Gene - OMIM - HGNC]
  • RGS20:regulator of G protein signaling 20 [Gene - OMIM - HGNC]
  • RNF122:ring finger protein 122 [Gene - OMIM - HGNC]
  • RNF170:ring finger protein 170 [Gene - OMIM - HGNC]
  • SPIDR:scaffold protein involved in DNA repair [Gene - OMIM - HGNC]
  • SCARA3:scavenger receptor class A member 3 [Gene - OMIM - HGNC]
  • SCARA5:scavenger receptor class A member 5 [Gene - OMIM - HGNC]
  • SFRP1:secreted frizzled related protein 1 [Gene - OMIM - HGNC]
  • SMIM18:small integral membrane protein 18 [Gene - HGNC]
  • SMIM19:small integral membrane protein 19 [Gene - HGNC]
  • SNAI2:snail family transcriptional repressor 2 [Gene - OMIM - HGNC]
  • SLC20A2:solute carrier family 20 member 2 [Gene - OMIM - HGNC]
  • STMN4:stathmin 4 [Gene - OMIM - HGNC]
  • STAR:steroidogenic acute regulatory protein [Gene - OMIM - HGNC]
  • SARAF:store-operated calcium entry associated regulatory factor [Gene - OMIM - HGNC]
  • SNTG1:syntrophin gamma 1 [Gene - OMIM - HGNC]
  • TEX15:testis expressed 15, meiosis and synapsis associated [Gene - OMIM - HGNC]
  • TCEA1:transcription elongation factor A1 [Gene - OMIM - HGNC]
  • TCIM:transcriptional and immune response regulator [Gene - OMIM - HGNC]
  • TACC1:transforming acidic coiled-coil containing protein 1 [Gene - OMIM - HGNC]
  • TRIM35:tripartite motif containing 35 [Gene - OMIM - HGNC]
  • UBE2V2:ubiquitin conjugating enzyme E2 V2 [Gene - OMIM - HGNC]
  • UNC5D:unc-5 netrin receptor D [Gene - OMIM - HGNC]
  • VDAC3:voltage dependent anion channel 3 [Gene - OMIM - HGNC]
  • ZMAT4:zinc finger matrin-type 4 [Gene - HGNC]
  • ZNF395:zinc finger protein 395 [Gene - OMIM - HGNC]
  • ZNF703:zinc finger protein 703 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
8p21.2-q12.1
Genomic location:
Chr8: 24772064 - 56509566 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3
HGVS:
    Links:
    dbVar: nssv13642101; dbVar: nsv2770008
    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
    SCV000499481ISCA Site 6

    See additional submitters

    no assertion criteria provided
    		Uncertain significanceunknownclinical 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, SCV000499481.1

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

    Last Updated: Sep 1, 2024