GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 AND See cases

Clinical significance:Pathogenic (Last evaluated: Aug 12, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000053630.4

Allele description [Variation Report for GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3]

GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3

Genes:
  • ADAMDEC1:ADAM like decysin 1 [Gene - OMIM - HGNC]
  • ADAM18:ADAM metallopeptidase domain 18 [Gene - HGNC]
  • ADAM28:ADAM metallopeptidase domain 28 [Gene - OMIM - HGNC]
  • ADAM2:ADAM metallopeptidase domain 2 [Gene - OMIM - HGNC]
  • ADAM32:ADAM metallopeptidase domain 32 [Gene - HGNC]
  • LOC100130964:ADAM metallopeptidase domain 3A-like [Gene]
  • ADAM7:ADAM metallopeptidase domain 7 [Gene - OMIM - HGNC]
  • ADAM9:ADAM metallopeptidase domain 9 [Gene - OMIM - HGNC]
  • ASH2L:ASH2 like histone lysine methyltransferase complex subunit [Gene - OMIM - HGNC]
  • ATP6V1B2:ATPase H+ transporting V1 subunit B2 [Gene - OMIM - HGNC]
  • BAG4:BCL2 associated athanogene 4 [Gene - OMIM - HGNC]
  • BNIP3L:BCL2 interacting protein 3 like [Gene - OMIM - HGNC]
  • BIN3-IT1:BIN3 intronic transcript 1 [Gene - HGNC]
  • BRF2:BRF2, RNA polymerase III transcription initiation factor subunit [Gene - OMIM - HGNC]
  • CNOT7:CCR4-NOT transcription complex subunit 7 [Gene - OMIM - HGNC]
  • DDHD2:DDHD domain containing 2 [Gene - OMIM - HGNC]
  • DLC1:DLC1 Rho GTPase activating protein [Gene - OMIM - HGNC]
  • POLB:DNA polymerase beta [Gene - OMIM - HGNC]
  • ERLIN2:ER lipid raft associated 2 [Gene - OMIM - HGNC]
  • EXTL3-AS1:EXTL3 antisense RNA 1 [Gene - HGNC]
  • FBXO16:F-box protein 16 [Gene - OMIM - HGNC]
  • GFRA2:GDNF family receptor alpha 2 [Gene - OMIM - HGNC]
  • GINS4:GINS complex subunit 4 [Gene - OMIM - HGNC]
  • HR:HR, lysine demethylase and nuclear receptor corepressor [Gene - OMIM - HGNC]
  • HTRA4:HtrA serine peptidase 4 [Gene - OMIM - HGNC]
  • KIAA1456:KIAA1456 [Gene - OMIM - HGNC]
  • LONRF1:LON peptidase N-terminal domain and ring finger 1 [Gene - HGNC]
  • LSM1:LSM1 homolog, mRNA degradation associated [Gene - OMIM - HGNC]
  • LZTS1-AS1:LZTS1 antisense RNA 1 [Gene - HGNC]
  • MAK16:MAK16 homolog [Gene - HGNC]
  • NAT1:N-acetyltransferase 1 [Gene - OMIM - HGNC]
  • NAT2:N-acetyltransferase 2 [Gene - OMIM - HGNC]
  • ASAH1:N-acylsphingosine amidohydrolase 1 [Gene - OMIM - HGNC]
  • NKX2-6:NK2 homeobox 6 [Gene - OMIM - HGNC]
  • NKX3-1:NK3 homeobox 1 [Gene - OMIM - HGNC]
  • NKX6-3:NK6 homeobox 3 [Gene - OMIM - HGNC]
  • NRG1-IT1:NRG1 intronic transcript 1 [Gene - HGNC]
  • NRG1-IT3:NRG1 intronic transcript 3 [Gene - HGNC]
  • PDLIM2:PDZ and LIM domain 2 [Gene - OMIM - HGNC]
  • PBK:PDZ binding kinase [Gene - OMIM - HGNC]
  • POTEA:POTE ankyrin domain family member A [Gene - OMIM - HGNC]
  • R3HCC1:R3H domain and coiled-coil containing 1 [Gene - HGNC]
  • RAB11FIP1:RAB11 family interacting protein 1 [Gene - OMIM - HGNC]
  • RBPMS-AS1:RBPMS antisense RNA 1 [Gene - HGNC]
  • RBPMS:RNA binding protein with multiple splicing [Gene - OMIM - HGNC]
  • POLR3D:RNA polymerase III subunit D [Gene - OMIM - HGNC]
  • RHOBTB2:Rho related BTB domain containing 2 [Gene - OMIM - HGNC]
  • SH2D4A:SH2 domain containing 4A [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]
  • TNFRSF10A:TNF receptor superfamily member 10a [Gene - OMIM - HGNC]
  • TNFRSF10B:TNF receptor superfamily member 10b [Gene - OMIM - HGNC]
  • TNFRSF10C:TNF receptor superfamily member 10c [Gene - OMIM - HGNC]
  • TNFRSF10D:TNF receptor superfamily member 10d [Gene - OMIM - HGNC]
  • UBXN8:UBX domain protein 8 [Gene - OMIM - HGNC]
  • VPS37A:VPS37A, ESCRT-I subunit [Gene - OMIM - HGNC]
  • WRN:Werner syndrome RecQ like helicase [Gene - OMIM - HGNC]
  • AP3M2:adaptor related protein complex 3 mu 2 subunit [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]
  • BMP1:bone morphogenetic protein 1 [Gene - OMIM - HGNC]
  • BIN3:bridging integrator 3 [Gene - OMIM - HGNC]
  • CCAR2:cell cycle and apoptosis regulator 2 [Gene - OMIM - HGNC]
  • CDCA2:cell division cycle associated 2 [Gene - HGNC]
  • CHMP7:charged multivesicular body protein 7 [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]
  • CSGALNACT1:chondroitin sulfate N-acetylgalactosaminyltransferase 1 [Gene - OMIM - HGNC]
  • C8orf48:chromosome 8 open reading frame 48 [Gene - HGNC]
  • C8orf4:chromosome 8 open reading frame 4 [Gene - OMIM - HGNC]
  • C8orf58:chromosome 8 open reading frame 58 [Gene - HGNC]
  • C8orf86:chromosome 8 open reading frame 86 [Gene - HGNC]
  • CLU:clusterin [Gene - OMIM - HGNC]
  • CCDC25:coiled-coil domain containing 25 [Gene - HGNC]
  • DOCK5:dedicator of cytokinesis 5 [Gene - OMIM - HGNC]
  • DMTN:dematin actin binding protein [Gene - OMIM - HGNC]
  • DKK4:dickkopf WNT signaling pathway inhibitor 4 [Gene - OMIM - HGNC]
  • DPYSL2:dihydropyrimidinase like 2 [Gene - OMIM - HGNC]
  • DOK2:docking protein 2 [Gene - OMIM - HGNC]
  • DUSP26:dual specificity phosphatase 26 [Gene - HGNC]
  • DUSP4:dual specificity phosphatase 4 [Gene - OMIM - HGNC]
  • DCTN6:dynactin subunit 6 [Gene - OMIM - HGNC]
  • EBF2:early B-cell factor 2 [Gene - OMIM - HGNC]
  • EGR3:early growth response 3 [Gene - OMIM - HGNC]
  • ENTPD4:ectonucleoside triphosphate diphosphohydrolase 4 [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]
  • XPO7:exportin 7 [Gene - OMIM - HGNC]
  • FAM160B2:family with sequence similarity 160 member B2 [Gene - HGNC]
  • FNTA:farnesyltransferase, CAAX box, alpha [Gene - OMIM - HGNC]
  • FGL1:fibrinogen like 1 [Gene - OMIM - HGNC]
  • FGF17:fibroblast growth factor 17 [Gene - OMIM - HGNC]
  • FGF20:fibroblast growth factor 20 [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]
  • GULOP:gulonolactone (L-) oxidase, pseudogene [Gene - OMIM - HGNC]
  • HGSNAT:heparan-alpha-glucosaminide N-acetyltransferase [Gene - OMIM - HGNC]
  • HMBOX1:homeobox containing 1 [Gene - 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]
  • INTS10:integrator complex subunit 10 [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]
  • LGI3:leucine rich repeat LGI family member 3 [Gene - OMIM - HGNC]
  • LETM2:leucine zipper and EF-hand containing transmembrane protein 2 [Gene - HGNC]
  • LZTS1:leucine zipper tumor suppressor 1 [Gene - OMIM - HGNC]
  • LPL:lipoprotein lipase [Gene - OMIM - HGNC]
  • LINC01288:long intergenic non-protein coding RNA 1288 [Gene - HGNC]
  • LINC01605:long intergenic non-protein coding RNA 1605 [Gene - HGNC]
  • LINC02099:long intergenic non-protein coding RNA 2099 [Gene - HGNC]
  • LINC02153:long intergenic non-protein coding RNA 2153 [Gene - HGNC]
  • LINC02209:long intergenic non-protein coding RNA 2209 [Gene - HGNC]
  • LINC00589:long intergenic non-protein coding RNA 589 [Gene - HGNC]
  • LINC00681:long intergenic non-protein coding RNA 681 [Gene - HGNC]
  • KAT6A:lysine acetyltransferase 6A [Gene - OMIM - HGNC]
  • LOXL2:lysyl oxidase like 2 [Gene - OMIM - HGNC]
  • MSR1:macrophage scavenger receptor 1 [Gene - OMIM - HGNC]
  • MBOAT4:membrane bound O-acyltransferase domain containing 4 [Gene - OMIM - HGNC]
  • MIR3148:microRNA 3148 [Gene - HGNC]
  • MIR320A:microRNA 320a [Gene - OMIM - HGNC]
  • MIR3622A:microRNA 3622a [Gene - HGNC]
  • MIR3622B:microRNA 3622b [Gene - HGNC]
  • MIR383:microRNA 383 [Gene - HGNC]
  • MIR3926-1:microRNA 3926-1 [Gene - HGNC]
  • MIR3926-2:microRNA 3926-2 [Gene - HGNC]
  • MIR4287:microRNA 4287 [Gene - HGNC]
  • MIR4288:microRNA 4288 [Gene - HGNC]
  • MIR4469:microRNA 4469 [Gene - HGNC]
  • MIR486-1:microRNA 486-1 [Gene - HGNC]
  • MIR486-2:microRNA 486-2 [Gene - HGNC]
  • MIR548AO:microRNA 548ao [Gene - HGNC]
  • MIR548H4:microRNA 548h-4 [Gene - HGNC]
  • MIR548V:microRNA 548v [Gene - HGNC]
  • MIR5692A2:microRNA 5692a-2 [Gene - HGNC]
  • MIR6841:microRNA 6841 [Gene - HGNC]
  • MIR6842:microRNA 6842 [Gene - HGNC]
  • MIR6843:microRNA 6843 [Gene - HGNC]
  • MIR6876:microRNA 6876 [Gene - HGNC]
  • MTUS1:microtubule associated scaffold protein 1 [Gene - OMIM - HGNC]
  • MICU3:mitochondrial calcium uptake family member 3 [Gene - OMIM - HGNC]
  • MTMR7:myotubularin related protein 7 [Gene - OMIM - HGNC]
  • NRG1:neuregulin 1 [Gene - OMIM - HGNC]
  • NEFL:neurofilament light [Gene - OMIM - HGNC]
  • NEFM:neurofilament medium [Gene - OMIM - HGNC]
  • NUGGC:nuclear GTPase, germinal center associated [Gene - HGNC]
  • NSD3:nuclear receptor binding SET domain protein 3 [Gene - OMIM - HGNC]
  • NPM2:nucleophosmin/nucleoplasmin 2 [Gene - OMIM - HGNC]
  • NUDT18:nudix hydrolase 18 [Gene - OMIM - HGNC]
  • PNMA2:paraneoplastic Ma antigen 2 [Gene - OMIM - HGNC]
  • PCM1:pericentriolar material 1 [Gene - OMIM - HGNC]
  • PEBP4:phosphatidylethanolamine binding protein 4 [Gene - OMIM - HGNC]
  • PLPP5:phospholipid phosphatase 5 [Gene - OMIM - HGNC]
  • PHYHIP:phytanoyl-CoA 2-hydroxylase interacting protein [Gene - OMIM - HGNC]
  • PIWIL2:piwi like RNA-mediated gene silencing 2 [Gene - OMIM - HGNC]
  • PLAT:plasminogen activator, tissue type [Gene - OMIM - HGNC]
  • PDGFRL:platelet derived growth factor receptor like [Gene - OMIM - HGNC]
  • PSD3:pleckstrin and Sec7 domain containing 3 [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]
  • PPP2CB:protein phosphatase 2 catalytic subunit beta [Gene - OMIM - HGNC]
  • PPP2R2A:protein phosphatase 2 regulatory subunit Balpha [Gene - OMIM - HGNC]
  • PPP3CC:protein phosphatase 3 catalytic subunit gamma [Gene - OMIM - HGNC]
  • PTK2B:protein tyrosine kinase 2 beta [Gene - OMIM - HGNC]
  • POMK:protein-O-mannose kinase [Gene - OMIM - HGNC]
  • PURG:purine rich element binding protein G [Gene - HGNC]
  • PLPBP:pyridoxal phosphate binding protein [Gene - OMIM - HGNC]
  • REEP4:receptor accessory protein 4 [Gene - OMIM - HGNC]
  • RNF122:ring finger protein 122 [Gene - HGNC]
  • RNF170:ring finger protein 170 [Gene - OMIM - HGNC]
  • SGCZ:sarcoglycan zeta [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]
  • SNORD13:small nucleolar RNA, C/D box 13 [Gene - OMIM - HGNC]
  • SLC18A1:solute carrier family 18 member A1 [Gene - OMIM - HGNC]
  • SLC20A2:solute carrier family 20 member 2 [Gene - OMIM - HGNC]
  • SLC25A37:solute carrier family 25 member 37 [Gene - OMIM - HGNC]
  • SLC39A14:solute carrier family 39 member 14 [Gene - OMIM - HGNC]
  • SLC7A2:solute carrier family 7 member 2 [Gene - OMIM - HGNC]
  • SORBS3:sorbin and SH3 domain containing 3 [Gene - OMIM - HGNC]
  • STC1:stanniocalcin 1 [Gene - OMIM - HGNC]
  • STMN4:stathmin 4 [Gene - HGNC]
  • STAR:steroidogenic acute regulatory protein [Gene - OMIM - HGNC]
  • SARAF:store-operated calcium entry associated regulatory factor [Gene - OMIM - HGNC]
  • SFTPC:surfactant protein C [Gene - OMIM - HGNC]
  • TEX15:testis expressed 15, meiosis and synapsis associated [Gene - OMIM - HGNC]
  • TACC1:transforming acidic coiled-coil containing protein 1 [Gene - OMIM - HGNC]
  • TRIM35:tripartite motif containing 35 [Gene - OMIM - HGNC]
  • TUSC3:tumor suppressor candidate 3 [Gene - OMIM - HGNC]
  • UNC5D:unc-5 netrin receptor D [Gene - OMIM - HGNC]
  • LOC100128993:uncharacterized LOC100128993 [Gene]
  • LOC100507071:uncharacterized LOC100507071 [Gene]
  • LOC100507156:uncharacterized LOC100507156 [Gene]
  • LOC101929066:uncharacterized LOC101929066 [Gene]
  • LOC101929172:uncharacterized LOC101929172 [Gene]
  • LOC101929237:uncharacterized LOC101929237 [Gene]
  • LOC101929294:uncharacterized LOC101929294 [Gene]
  • LOC101929315:uncharacterized LOC101929315 [Gene]
  • LOC101929470:uncharacterized LOC101929470 [Gene]
  • LOC101929550:uncharacterized LOC101929550 [Gene]
  • LOC101929622:uncharacterized LOC101929622 [Gene]
  • LOC101929897:uncharacterized LOC101929897 [Gene]
  • LOC102467222:uncharacterized LOC102467222 [Gene]
  • LOC102723701:uncharacterized LOC102723701 [Gene]
  • LOC102723729:uncharacterized LOC102723729 [Gene]
  • LOC102725080:uncharacterized LOC102725080 [Gene]
  • LOC105379393:uncharacterized LOC105379393 [Gene]
  • LOC254896:uncharacterized LOC254896 [Gene]
  • LOC340357:uncharacterized LOC340357 [Gene]
  • LOC389641:uncharacterized LOC389641 [Gene]
  • LOC729732:uncharacterized LOC729732 [Gene]
  • VDAC3:voltage dependent anion channel 3 [Gene - OMIM - HGNC]
  • ZDHHC2:zinc finger DHHC-type containing 2 [Gene - 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:
8p23.1-11.1
Genomic location:
Preferred name:
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3
HGVS:
  • NC_000008.11:g.(?_12609975)_(43336172_?)dup
  • NC_000008.10:g.(?_12467484)_(43191315_?)dup
  • NC_000008.9:g.(?_12511855)_(43310472_?)dup
Links:
dbVar: nssv579075; dbVar: nsv532293
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000080993ISCA site 4

See additional submitters

criteria provided, single submitter
Pathogenic
(Aug 12, 2011)
not providedclinical testing

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

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations. Clinical assertions have been curated as described in Kaminsky et al. 2011.

SCV000080993

Summary from all submissions

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

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 4, SCV000080993.4

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

Last Updated: Jul 15, 2017