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GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 14, 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:
RCV000511589.3

Allele description [Variation Report for GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)]

GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)

Genes:
  • AGPAT3:1-acylglycerol-3-phosphate O-acyltransferase 3 [Gene - OMIM - HGNC]
  • ADAMTS1:ADAM metallopeptidase with thrombospondin type 1 motif 1 [Gene - OMIM - HGNC]
  • ADAMTS5:ADAM metallopeptidase with thrombospondin type 1 motif 5 [Gene - OMIM - HGNC]
  • ABCG1:ATP binding cassette subfamily G member 1 [Gene - OMIM - HGNC]
  • ATP5PF:ATP synthase peripheral stalk subunit F6 [Gene - OMIM - HGNC]
  • ATP5PO:ATP synthase peripheral stalk subunit OSCP [Gene - OMIM - HGNC]
  • BACH1:BTB domain and CNC homolog 1 [Gene - OMIM - HGNC]
  • BTG3:BTG anti-proliferation factor 3 [Gene - OMIM - HGNC]
  • C2CD2:C2 calcium dependent domain containing 2 [Gene - OMIM - HGNC]
  • CXADR:CXADR Ig-like cell adhesion molecule [Gene - OMIM - HGNC]
  • DNMT3L:DNA methyltransferase 3 like [Gene - OMIM - HGNC]
  • DONSON:DNA replication fork stabilization factor DONSON [Gene - OMIM - HGNC]
  • DOP1B:DOP1 leucine zipper like protein B [Gene - OMIM - HGNC]
  • DSCAM:DS cell adhesion molecule [Gene - OMIM - HGNC]
  • DNAJC28:DnaJ heat shock protein family (Hsp40) member C28 [Gene - HGNC]
  • DSCR4:Down syndrome critical region 4 [Gene - OMIM - HGNC]
  • DSCR8:Down syndrome critical region 8 [Gene - OMIM - HGNC]
  • ETS2:ETS proto-oncogene 2, transcription factor [Gene - OMIM - HGNC]
  • ERG:ETS transcription factor ERG [Gene - OMIM - HGNC]
  • FAM3B:FAM3 metabolism regulating signaling molecule B [Gene - OMIM - HGNC]
  • GABPA:GA binding protein transcription factor subunit alpha [Gene - OMIM - HGNC]
  • MAP3K7CL:MAP3K7 C-terminal like [Gene - OMIM - HGNC]
  • MIS18A:MIS18 kinetochore protein A [Gene - OMIM - HGNC]
  • MORC3:MORC family CW-type zinc finger 3 [Gene - OMIM - HGNC]
  • MX1:MX dynamin like GTPase 1 [Gene - OMIM - HGNC]
  • MX2:MX dynamin like GTPase 2 [Gene - OMIM - HGNC]
  • N6AMT1:N-6 adenine-specific DNA methyltransferase 1 [Gene - OMIM - HGNC]
  • NDUFV3:NADH:ubiquinone oxidoreductase subunit V3 [Gene - OMIM - HGNC]
  • PAXBP1:PAX3 and PAX7 binding protein 1 [Gene - OMIM - HGNC]
  • PKNOX1:PBX/knotted 1 homeobox 1 [Gene - OMIM - HGNC]
  • POTED:POTE ankyrin domain family member D [Gene - OMIM - HGNC]
  • PRDM15:PR/SET domain 15 [Gene - OMIM - HGNC]
  • PTTG1IP:PTTG1 interacting protein [Gene - OMIM - HGNC]
  • PWP2:PWP2 small subunit processome component [Gene - OMIM - HGNC]
  • PCP4:Purkinje cell protein 4 [Gene - OMIM - HGNC]
  • RBM11:RNA binding motif protein 11 [Gene - OMIM - HGNC]
  • RUNX1:RUNX family transcription factor 1 [Gene - OMIM - HGNC]
  • RWDD2B:RWD domain containing 2B [Gene - OMIM - HGNC]
  • S100B:S100 calcium binding protein B [Gene - OMIM - HGNC]
  • SAMSN1:SAM domain, SH3 domain and nuclear localization signals 1 [Gene - OMIM - HGNC]
  • SETD4:SET domain containing 4 [Gene - HGNC]
  • SH3BGR:SH3 domain binding glutamate rich protein [Gene - OMIM - HGNC]
  • SIM2:SIM bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • SLX9:SLX9 ribosome biogenesis factor [Gene - HGNC]
  • SON:SON DNA and RNA binding protein [Gene - OMIM - HGNC]
  • SCAF4:SR-related CTD associated factor 4 [Gene - OMIM - HGNC]
  • TIAM1:TIAM Rac1 associated GEF 1 [Gene - OMIM - HGNC]
  • U2AF1:U2 small nuclear RNA auxiliary factor 1 [Gene - OMIM - HGNC]
  • URB1:URB1 ribosome biogenesis homolog [Gene - OMIM - HGNC]
  • VPS26C:VPS26 endosomal protein sorting factor C [Gene - OMIM - HGNC]
  • WDR4:WD repeat domain 4 [Gene - OMIM - HGNC]
  • ADARB1:adenosine deaminase RNA specific B1 [Gene - OMIM - HGNC]
  • APP:amyloid beta precursor protein [Gene - OMIM - HGNC]
  • AIRE:autoimmune regulator [Gene - OMIM - HGNC]
  • B3GALT5:beta-1,3-galactosyltransferase 5 [Gene - OMIM - HGNC]
  • BACE2:beta-secretase 2 [Gene - OMIM - HGNC]
  • BRWD1:bromodomain and WD repeat domain containing 1 [Gene - OMIM - HGNC]
  • CBR1:carbonyl reductase 1 [Gene - OMIM - HGNC]
  • CBR3:carbonyl reductase 3 [Gene - OMIM - HGNC]
  • CCT8:chaperonin containing TCP1 subunit 8 [Gene - OMIM - HGNC]
  • CLIC6:chloride intracellular channel 6 [Gene - OMIM - HGNC]
  • CHODL:chondrolectin [Gene - OMIM - HGNC]
  • CHAF1B:chromatin assembly factor 1 subunit B [Gene - OMIM - HGNC]
  • C21orf58:chromosome 21 open reading frame 58 [Gene - HGNC]
  • C21orf91:chromosome 21 open reading frame 91 [Gene - HGNC]
  • CFAP298:cilia and flagella associated protein 298 [Gene - OMIM - HGNC]
  • CFAP410:cilia and flagella associated protein 410 [Gene - OMIM - HGNC]
  • CLDN14:claudin 14 [Gene - OMIM - HGNC]
  • CLDN17:claudin 17 [Gene - OMIM - HGNC]
  • CLDN8:claudin 8 [Gene - OMIM - HGNC]
  • COL6A1:collagen type VI alpha 1 chain [Gene - OMIM - HGNC]
  • COL6A2:collagen type VI alpha 2 chain [Gene - OMIM - HGNC]
  • COL18A1:collagen type XVIII alpha 1 chain [Gene - OMIM - HGNC]
  • CRYAA:crystallin alpha A [Gene - OMIM - HGNC]
  • CRYZL1:crystallin zeta like 1 [Gene - OMIM - HGNC]
  • CBS:cystathionine beta-synthase [Gene - OMIM - HGNC]
  • CSTB:cystatin B [Gene - OMIM - HGNC]
  • CYYR1:cysteine and tyrosine rich 1 [Gene - OMIM - HGNC]
  • DIP2A:disco interacting protein 2 homolog A [Gene - OMIM - HGNC]
  • DYRK1A:dual specificity tyrosine phosphorylation regulated kinase 1A [Gene - OMIM - HGNC]
  • EVA1C:eva-1 homolog C [Gene - HGNC]
  • EPCIP:exosomal polycystin 1 interacting protein [Gene - HGNC]
  • FTCD:formimidoyltransferase cyclodeaminase [Gene - OMIM - HGNC]
  • GRIK1:glutamate ionotropic receptor kainate type subunit 1 [Gene - OMIM - HGNC]
  • GATD3:glutamine amidotransferase class 1 domain containing 3 [Gene - OMIM - HGNC]
  • GET1:guided entry of tail-anchored proteins factor 1 [Gene - OMIM - HGNC]
  • HSPA13:heat shock protein family A (Hsp70) member 13 [Gene - OMIM - HGNC]
  • HSF2BP:heat shock transcription factor 2 binding protein [Gene - OMIM - HGNC]
  • HMGN1:high mobility group nucleosome binding domain 1 [Gene - OMIM - HGNC]
  • HLCS:holocarboxylase synthetase [Gene - OMIM - HGNC]
  • HUNK:hormonally up-regulated Neu-associated kinase [Gene - OMIM - HGNC]
  • IGSF5:immunoglobulin superfamily member 5 [Gene - OMIM - HGNC]
  • ICOSLG:inducible T cell costimulator ligand [Gene - OMIM - HGNC]
  • ITGB2:integrin subunit beta 2 [Gene - OMIM - HGNC]
  • IFNAR1:interferon alpha and beta receptor subunit 1 [Gene - OMIM - HGNC]
  • IFNAR2:interferon alpha and beta receptor subunit 2 [Gene - OMIM - HGNC]
  • IFNGR2:interferon gamma receptor 2 [Gene - OMIM - HGNC]
  • IL10RB:interleukin 10 receptor subunit beta [Gene - OMIM - HGNC]
  • ITSN1:intersectin 1 [Gene - OMIM - HGNC]
  • JAM2:junctional adhesion molecule 2 [Gene - OMIM - HGNC]
  • KRTAP10-10:keratin associated protein 10-10 [Gene - HGNC]
  • KRTAP10-11:keratin associated protein 10-11 [Gene - HGNC]
  • KRTAP10-12:keratin associated protein 10-12 [Gene - HGNC]
  • KRTAP10-1:keratin associated protein 10-1 [Gene - HGNC]
  • KRTAP10-2:keratin associated protein 10-2 [Gene - HGNC]
  • KRTAP10-3:keratin associated protein 10-3 [Gene - HGNC]
  • KRTAP10-4:keratin associated protein 10-4 [Gene - HGNC]
  • KRTAP10-5:keratin associated protein 10-5 [Gene - HGNC]
  • KRTAP10-6:keratin associated protein 10-6 [Gene - HGNC]
  • KRTAP10-7:keratin associated protein 10-7 [Gene - HGNC]
  • KRTAP10-8:keratin associated protein 10-8 [Gene - HGNC]
  • KRTAP10-9:keratin associated protein 10-9 [Gene - HGNC]
  • KRTAP11-1:keratin associated protein 11-1 [Gene - OMIM - HGNC]
  • KRTAP12-1:keratin associated protein 12-1 [Gene - HGNC]
  • KRTAP12-2:keratin associated protein 12-2 [Gene - HGNC]
  • KRTAP12-3:keratin associated protein 12-3 [Gene - HGNC]
  • KRTAP12-4:keratin associated protein 12-4 [Gene - HGNC]
  • KRTAP13-1:keratin associated protein 13-1 [Gene - OMIM - HGNC]
  • KRTAP13-2:keratin associated protein 13-2 [Gene - HGNC]
  • KRTAP13-3:keratin associated protein 13-3 [Gene - HGNC]
  • KRTAP13-4:keratin associated protein 13-4 [Gene - HGNC]
  • KRTAP15-1:keratin associated protein 15-1 [Gene - HGNC]
  • KRTAP19-1:keratin associated protein 19-1 [Gene - HGNC]
  • KRTAP19-2:keratin associated protein 19-2 [Gene - HGNC]
  • KRTAP19-3:keratin associated protein 19-3 [Gene - HGNC]
  • KRTAP19-4:keratin associated protein 19-4 [Gene - HGNC]
  • KRTAP19-5:keratin associated protein 19-5 [Gene - HGNC]
  • KRTAP19-6:keratin associated protein 19-6 [Gene - HGNC]
  • KRTAP19-7:keratin associated protein 19-7 [Gene - HGNC]
  • KRTAP19-8:keratin associated protein 19-8 [Gene - HGNC]
  • KRTAP20-1:keratin associated protein 20-1 [Gene - HGNC]
  • KRTAP20-2:keratin associated protein 20-2 [Gene - HGNC]
  • KRTAP20-3:keratin associated protein 20-3 [Gene - HGNC]
  • KRTAP20-4:keratin associated protein 20-4 [Gene - HGNC]
  • KRTAP21-1:keratin associated protein 21-1 [Gene - HGNC]
  • KRTAP21-2:keratin associated protein 21-2 [Gene - HGNC]
  • KRTAP21-3:keratin associated protein 21-3 [Gene - HGNC]
  • KRTAP22-1:keratin associated protein 22-1 [Gene - HGNC]
  • KRTAP22-2:keratin associated protein 22-2 [Gene - HGNC]
  • KRTAP23-1:keratin associated protein 23-1 [Gene - HGNC]
  • KRTAP24-1:keratin associated protein 24-1 [Gene - OMIM - HGNC]
  • KRTAP25-1:keratin associated protein 25-1 [Gene - HGNC]
  • KRTAP26-1:keratin associated protein 26-1 [Gene - HGNC]
  • KRTAP27-1:keratin associated protein 27-1 [Gene - HGNC]
  • KRTAP6-1:keratin associated protein 6-1 [Gene - HGNC]
  • KRTAP6-2:keratin associated protein 6-2 [Gene - HGNC]
  • KRTAP6-3:keratin associated protein 6-3 [Gene - HGNC]
  • KRTAP7-1:keratin associated protein 7-1 [Gene - HGNC]
  • KRTAP8-1:keratin associated protein 8-1 [Gene - HGNC]
  • LSS:lanosterol synthase [Gene - OMIM - HGNC]
  • LCA5L:lebercilin LCA5 like [Gene - HGNC]
  • LRRC3:leucine rich repeat containing 3 [Gene - OMIM - HGNC]
  • LIPI:lipase I [Gene - OMIM - HGNC]
  • LTN1:listerin E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • LINC00114:long intergenic non-protein coding RNA 114 [Gene - OMIM - HGNC]
  • LINC00163:long intergenic non-protein coding RNA 163 [Gene - OMIM - HGNC]
  • LINC00315:long intergenic non-protein coding RNA 315 [Gene - HGNC]
  • LINC00334:long intergenic non-protein coding RNA 334 [Gene - HGNC]
  • MRAP:melanocortin 2 receptor accessory protein [Gene - OMIM - HGNC]
  • MIR125B2:microRNA 125b-2 [Gene - OMIM - HGNC]
  • MIR155:microRNA 155 [Gene - OMIM - HGNC]
  • MIR99A:microRNA 99a [Gene - OMIM - HGNC]
  • MIRLET7C:microRNA let-7c [Gene - OMIM - HGNC]
  • MCM3AP:minichromosome maintenance complex component 3 associated protein [Gene - OMIM - HGNC]
  • MRPL39:mitochondrial ribosomal protein L39 [Gene - OMIM - HGNC]
  • MRPS6:mitochondrial ribosomal protein S6 [Gene - OMIM - HGNC]
  • NCAM2:neural cell adhesion molecule 2 [Gene - OMIM - HGNC]
  • NRIP1:nuclear receptor interacting protein 1 [Gene - OMIM - HGNC]
  • OLIG1:oligodendrocyte transcription factor 1 [Gene - OMIM - HGNC]
  • OLIG2:oligodendrocyte transcription factor 2 [Gene - OMIM - HGNC]
  • PCNT:pericentrin [Gene - OMIM - HGNC]
  • PIGP:phosphatidylinositol glycan anchor biosynthesis class P [Gene - OMIM - HGNC]
  • PDE9A:phosphodiesterase 9A [Gene - OMIM - HGNC]
  • PFKL:phosphofructokinase, liver type [Gene - OMIM - HGNC]
  • GART:phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase [Gene - OMIM - HGNC]
  • PLAC4:placenta enriched 4 [Gene - OMIM - HGNC]
  • PCBP3:poly(rC) binding protein 3 [Gene - OMIM - HGNC]
  • KCNJ15:potassium inwardly rectifying channel subfamily J member 15 [Gene - OMIM - HGNC]
  • KCNJ6:potassium inwardly rectifying channel subfamily J member 6 [Gene - OMIM - HGNC]
  • KCNE1:potassium voltage-gated channel subfamily E regulatory subunit 1 [Gene - OMIM - HGNC]
  • KCNE2:potassium voltage-gated channel subfamily E regulatory subunit 2 [Gene - OMIM - HGNC]
  • PSMG1:proteasome assembly chaperone 1 [Gene - OMIM - HGNC]
  • POFUT2:protein O-fucosyltransferase 2 [Gene - OMIM - HGNC]
  • PRMT2:protein arginine methyltransferase 2 [Gene - OMIM - HGNC]
  • PDXK:pyridoxal kinase [Gene - OMIM - HGNC]
  • RSPH1:radial spoke head component 1 [Gene - OMIM - HGNC]
  • RIPK4:receptor interacting serine/threonine kinase 4 [Gene - OMIM - HGNC]
  • RCAN1:regulator of calcineurin 1 [Gene - OMIM - HGNC]
  • RRP1:ribosomal RNA processing 1 [Gene - OMIM - HGNC]
  • RRP1B:ribosomal RNA processing 1B [Gene - OMIM - HGNC]
  • RIPPLY3:ripply transcriptional repressor 3 [Gene - OMIM - HGNC]
  • SIK1:salt inducible kinase 1 [Gene - OMIM - HGNC]
  • SMIM11:small integral membrane protein 11 [Gene - HGNC]
  • SUMO3:small ubiquitin like modifier 3 [Gene - OMIM - HGNC]
  • SLC19A1:solute carrier family 19 member 1 [Gene - OMIM - HGNC]
  • SLC37A1:solute carrier family 37 member 1 [Gene - OMIM - HGNC]
  • SLC5A3:solute carrier family 5 member 3 [Gene - OMIM - HGNC]
  • SPATC1L:spermatogenesis and centriole associated 1 like [Gene - OMIM - HGNC]
  • SOD1:superoxide dismutase 1 [Gene - OMIM - HGNC]
  • SYNJ1:synaptojanin 1 [Gene - OMIM - HGNC]
  • TCP10L:t-complex 10 like [Gene - OMIM - HGNC]
  • TTC3:tetratricopeptide repeat domain 3 [Gene - OMIM - HGNC]
  • TSPEAR:thrombospondin type laminin G domain and EAR repeats [Gene - OMIM - HGNC]
  • TRAPPC10:trafficking protein particle complex subunit 10 [Gene - OMIM - HGNC]
  • TRPM2:transient receptor potential cation channel subfamily M member 2 [Gene - OMIM - HGNC]
  • TMEM50B:transmembrane protein 50B [Gene - OMIM - HGNC]
  • TMPRSS15:transmembrane serine protease 15 [Gene - OMIM - HGNC]
  • TMPRSS2:transmembrane serine protease 2 [Gene - OMIM - HGNC]
  • TMPRSS3:transmembrane serine protease 3 [Gene - OMIM - HGNC]
  • TFF1:trefoil factor 1 [Gene - OMIM - HGNC]
  • TFF2:trefoil factor 2 [Gene - OMIM - HGNC]
  • TFF3:trefoil factor 3 [Gene - OMIM - HGNC]
  • UBASH3A:ubiquitin associated and SH3 domain containing A [Gene - OMIM - HGNC]
  • UBE2G2:ubiquitin conjugating enzyme E2 G2 [Gene - OMIM - HGNC]
  • USP16:ubiquitin specific peptidase 16 [Gene - OMIM - HGNC]
  • USP25:ubiquitin specific peptidase 25 [Gene - OMIM - HGNC]
  • UMODL1:uromodulin like 1 [Gene - OMIM - HGNC]
  • YBEY:ybeY metalloendoribonuclease [Gene - OMIM - HGNC]
  • ZBTB21:zinc finger and BTB domain containing 21 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
21q11.2-22.3
Genomic location:
Chr21: 15006458 - 48097372 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)
HGVS:
    Links:
    dbVar: nssv13655146; dbVar: nsv995205
    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
    SCV000586667ISCA site 1

    See additional submitters

    no assertion criteria provided
    		Pathogenic
    (Jul 14, 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, SCV000586667.1

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

    Last Updated: Sep 1, 2024