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GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 30, 2017
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:
RCV000847171.2

Allele description [Variation Report for GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3]

GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3

Genes:
  • OPLAH:5-oxoprolinase, ATP-hydrolysing [Gene - OMIM - HGNC]
  • BOP1:BOP1 ribosomal biogenesis factor [Gene - OMIM - HGNC]
  • COMMD5:COMM domain containing 5 [Gene - OMIM - HGNC]
  • DENND3:DENN domain containing 3 [Gene - OMIM - HGNC]
  • TOP1MT:DNA topoisomerase I mitochondrial [Gene - OMIM - HGNC]
  • FBXL6:F-box and leucine rich repeat protein 6 [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]
  • HGH1:HGH1 homolog [Gene - HGNC]
  • JRK:Jrk helix-turn-helix protein [Gene - OMIM - HGNC]
  • KHDRBS3:KH RNA binding domain containing, signal transduction associated 3 [Gene - OMIM - HGNC]
  • LYPD2:LY6/PLAUR domain containing 2 [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]
  • 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]
  • VPS28:VPS28 subunit of ESCRT-I [Gene - OMIM - HGNC]
  • ZFP41:ZFP41 zinc finger protein [Gene - HGNC]
  • ADCK5:aarF domain containing kinase 5 [Gene - HGNC]
  • ARC:activity regulated cytoskeleton associated protein [Gene - OMIM - HGNC]
  • ADGRB1:adhesion G protein-coupled receptor B1 [Gene - OMIM - HGNC]
  • AGO2:argonaute RISC catalytic component 2 [Gene - OMIM - HGNC]
  • CHRAC1:chromatin accessibility complex subunit 1 [Gene - OMIM - HGNC]
  • C8orf33:chromosome 8 open reading frame 33 [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]
  • COL22A1:collagen type XXII alpha 1 chain [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]
  • DGAT1:diacylglycerol O-acyltransferase 1 [Gene - OMIM - HGNC]
  • EPPK1:epiplakin 1 [Gene - OMIM - HGNC]
  • EEF1D:eukaryotic translation elongation factor 1 delta [Gene - OMIM - HGNC]
  • EXOSC4:exosome component 4 [Gene - OMIM - HGNC]
  • FAM135B:family with sequence similarity 135 member B [Gene - HGNC]
  • FAM83H:family with sequence similarity 83 member H [Gene - OMIM - HGNC]
  • FOXH1:forkhead box H1 [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]
  • KIFC2:kinesin family member C2 [Gene - OMIM - HGNC]
  • LRRC14:leucine rich repeat containing 14 [Gene - OMIM - HGNC]
  • LRRC24:leucine rich repeat containing 24 [Gene - HGNC]
  • LINC02904:long intergenic non-protein coding RNA 2904 [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 - HGNC]
  • MIR1234:microRNA 1234 [Gene - HGNC]
  • MIR661:microRNA 661 [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]
  • 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]
  • 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]
  • 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]
  • 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]
  • TSNARE1:t-SNARE domain containing 1 [Gene - HGNC]
  • THEM6:thioesterase superfamily member 6 [Gene - 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]
  • TMEM249:transmembrane protein 249 [Gene - HGNC]
  • ZC3H3:zinc finger CCCH-type containing 3 [Gene - OMIM - HGNC]
  • ZFTRAF1:zinc finger TRAF-type containing 1 [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]
  • 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]
Variant type:
copy number gain
Cytogenetic location:
8q24.22-24.3
Genomic location:
Chr8: 136059859 - 146295771 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000989293Bionano Laboratories
    no assertion criteria provided
    Pathogenic
    (Nov 30, 2017)
    unknownclinical testing

    Summary from all submissions

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

    Details of each submission

    From Bionano Laboratories, SCV000989293.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providedBuccalnot providednot providednot providednot providednot provided

    Last Updated: Mar 26, 2023