GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3 AND See cases

Clinical significance:Pathogenic (Last evaluated: Jun 23, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000511098.1

Allele description [Variation Report for GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3]

GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3

Genes:
  • BCR:BCR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
  • BPIFC:BPI fold containing family C [Gene - OMIM - HGNC]
  • DDTL:D-dopachrome tautomerase like [Gene - HGNC]
  • DDT:D-dopachrome tautomerase [Gene - OMIM - HGNC]
  • DEPDC5:DEP domain containing 5, GATOR1 subcomplex subunit [Gene - OMIM - HGNC]
  • EMID1:EMI domain containing 1 [Gene - OMIM - HGNC]
  • EWSR1:EWS RNA binding protein 1 [Gene - OMIM - HGNC]
  • FBXO7:F-box protein 7 [Gene - OMIM - HGNC]
  • GRK3:G protein-coupled receptor kinase 3 [Gene - OMIM - HGNC]
  • HMGXB4:HMG-box containing 4 [Gene - OMIM - HGNC]
  • HORMAD2:HORMA domain containing 2 [Gene - HGNC]
  • HPS4:HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 [Gene - OMIM - HGNC]
  • HSCB:HscB mitochondrial iron-sulfur cluster cochaperone [Gene - OMIM - HGNC]
  • KIAA1671:KIAA1671 [Gene - HGNC]
  • LARGE1:LARGE xylosyl- and glucuronyltransferase 1 [Gene - OMIM - HGNC]
  • LRP5L:LDL receptor related protein 5 like [Gene - HGNC]
  • LIF:LIF interleukin 6 family cytokine [Gene - OMIM - HGNC]
  • LIMK2:LIM domain kinase 2 [Gene - OMIM - HGNC]
  • MN1:MN1 proto-oncogene, transcriptional regulator [Gene - OMIM - HGNC]
  • MORC2:MORC family CW-type zinc finger 2 [Gene - OMIM - HGNC]
  • PATZ1:POZ/BTB and AT hook containing zinc finger 1 [Gene - OMIM - HGNC]
  • RASL10A:RAS like family 10 member A [Gene - OMIM - HGNC]
  • RASD2:RASD family member 2 [Gene - OMIM - HGNC]
  • RFPL1S:RFPL1 antisense RNA 1 [Gene - OMIM - HGNC]
  • RFPL3S:RFPL3 antisense [Gene - OMIM - HGNC]
  • RTCB:RNA 2',3'-cyclic phosphate and 5'-OH ligase [Gene - OMIM - HGNC]
  • RBFOX2:RNA binding fox-1 homolog 2 [Gene - OMIM - HGNC]
  • SEC14L2:SEC14 like lipid binding 2 [Gene - OMIM - HGNC]
  • SEC14L3:SEC14 like lipid binding 3 [Gene - OMIM - HGNC]
  • SEC14L4:SEC14 like lipid binding 4 [Gene - OMIM - HGNC]
  • SEC14L6:SEC14 like lipid binding 6 [Gene - HGNC]
  • SFI1:SFI1 centrin binding protein [Gene - OMIM - HGNC]
  • SRRD:SRR1 domain containing [Gene - OMIM - HGNC]
  • SMARCB1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [Gene - OMIM - HGNC]
  • TBC1D10A:TBC1 domain family member 10A [Gene - OMIM - HGNC]
  • THOC5:THO complex 5 [Gene - OMIM - HGNC]
  • TIMP3:TIMP metallopeptidase inhibitor 3 [Gene - OMIM - HGNC]
  • VPREB3:V-set pre-B cell surrogate light chain 3 [Gene - OMIM - HGNC]
  • XBP1:X-box binding protein 1 [Gene - OMIM - HGNC]
  • ASCC2:activating signal cointegrator 1 complex subunit 2 [Gene - OMIM - HGNC]
  • AP1B1:adaptor related protein complex 1 subunit beta 1 [Gene - OMIM - HGNC]
  • ADORA2A:adenosine A2a receptor [Gene - OMIM - HGNC]
  • APOL3:apolipoprotein L3 [Gene - OMIM - HGNC]
  • APOL4:apolipoprotein L4 [Gene - OMIM - HGNC]
  • APOL5:apolipoprotein L5 [Gene - OMIM - HGNC]
  • APOL6:apolipoprotein L6 [Gene - OMIM - HGNC]
  • ASPHD2:aspartate beta-hydroxylase domain containing 2 [Gene - HGNC]
  • DRICH1:aspartate rich 1 [Gene - HGNC]
  • UPB1:beta-ureidopropionase 1 [Gene - OMIM - HGNC]
  • CABIN1:calcineurin binding protein 1 [Gene - OMIM - HGNC]
  • CABP7:calcium binding protein 7 [Gene - HGNC]
  • CHEK2:checkpoint kinase 2 [Gene - OMIM - HGNC]
  • C22orf15:chromosome 22 open reading frame 15 [Gene - HGNC]
  • C22orf24:chromosome 22 open reading frame 24 [Gene - HGNC]
  • C22orf31:chromosome 22 open reading frame 31 [Gene - HGNC]
  • C22orf42:chromosome 22 open reading frame 42 [Gene - HGNC]
  • CCDC117:coiled-coil domain containing 117 [Gene - HGNC]
  • CCDC157:coiled-coil domain containing 157 [Gene - HGNC]
  • CHCHD10:coiled-coil-helix-coiled-coil-helix domain containing 10 [Gene - OMIM - HGNC]
  • CRYBA4:crystallin beta A4 [Gene - OMIM - HGNC]
  • CRYBB1:crystallin beta B1 [Gene - OMIM - HGNC]
  • CRYBB2:crystallin beta B2 [Gene - OMIM - HGNC]
  • CRYBB3:crystallin beta B3 [Gene - OMIM - HGNC]
  • CASTOR1:cytosolic arginine sensor for mTORC1 subunit 1 [Gene - OMIM - HGNC]
  • DERL3:derlin 3 [Gene - OMIM - HGNC]
  • DRG1:developmentally regulated GTP binding protein 1 [Gene - OMIM - HGNC]
  • DUSP18:dual specificity phosphatase 18 [Gene - OMIM - HGNC]
  • EIF4ENIF1:eukaryotic translation initiation factor 4E nuclear import factor 1 [Gene - OMIM - HGNC]
  • GAL3ST1:galactose-3-O-sulfotransferase 1 [Gene - OMIM - HGNC]
  • GGT1:gamma-glutamyltransferase 1 [Gene - OMIM - HGNC]
  • GGT5:gamma-glutamyltransferase 5 [Gene - OMIM - HGNC]
  • GSTT1:glutathione S-transferase theta 1 [Gene - OMIM - HGNC]
  • GSTT2:glutathione S-transferase theta 2 (gene/pseudogene) [Gene - OMIM - HGNC]
  • GSTT2B:glutathione S-transferase theta 2B (gene/pseudogene) [Gene - HGNC]
  • GAS2L1:growth arrest specific 2 like 1 [Gene - OMIM - HGNC]
  • GUCD1:guanylyl cyclase domain containing 1 [Gene - HGNC]
  • HMOX1:heme oxygenase 1 [Gene - OMIM - HGNC]
  • IGLL1:immunoglobulin lambda like polypeptide 1 [Gene - OMIM - HGNC]
  • INPP5J:inositol polyphosphate-5-phosphatase J [Gene - OMIM - HGNC]
  • ISX:intestine specific homeobox [Gene - OMIM - HGNC]
  • KREMEN1:kringle containing transmembrane protein 1 [Gene - OMIM - HGNC]
  • LRRC75B:leucine rich repeat containing 75B [Gene - HGNC]
  • MIF:macrophage migration inhibitory factor [Gene - OMIM - HGNC]
  • MMP11:matrix metallopeptidase 11 [Gene - OMIM - HGNC]
  • MCM5:minichromosome maintenance complex component 5 [Gene - OMIM - HGNC]
  • MTFP1:mitochondrial fission process 1 [Gene - OMIM - HGNC]
  • MIAT:myocardial infarction associated transcript [Gene - OMIM - HGNC]
  • MB:myoglobin [Gene - OMIM - HGNC]
  • MYO18B:myosin XVIIIB [Gene - OMIM - HGNC]
  • MTMR3:myotubularin related protein 3 [Gene - OMIM - HGNC]
  • NF2:neurofibromin 2 [Gene - OMIM - HGNC]
  • NEFH:neurofilament heavy [Gene - OMIM - HGNC]
  • NIPSNAP1:nipsnap homolog 1 [Gene - OMIM - HGNC]
  • OSM:oncostatin M [Gene - OMIM - HGNC]
  • OSBP2:oxysterol binding protein 2 [Gene - OMIM - HGNC]
  • PES1:pescadillo ribosomal biogenesis factor 1 [Gene - OMIM - HGNC]
  • PITPNB:phosphatidylinositol transfer protein beta [Gene - OMIM - HGNC]
  • PISD:phosphatidylserine decarboxylase [Gene - OMIM - HGNC]
  • PIK3IP1:phosphoinositide-3-kinase interacting protein 1 [Gene - HGNC]
  • PLA2G3:phospholipase A2 group III [Gene - OMIM - HGNC]
  • PIWIL3:piwi like RNA-mediated gene silencing 3 [Gene - OMIM - HGNC]
  • PRR14L:proline rich 14 like [Gene - HGNC]
  • RGL4:ral guanine nucleotide dissociation stimulator like 4 [Gene - OMIM - HGNC]
  • RFPL1:ret finger protein like 1 [Gene - OMIM - HGNC]
  • RFPL2:ret finger protein like 2 [Gene - OMIM - HGNC]
  • RFPL3:ret finger protein like 3 [Gene - OMIM - HGNC]
  • RHBDD3:rhomboid domain containing 3 [Gene - HGNC]
  • RNF185:ring finger protein 185 [Gene - HGNC]
  • RNF215:ring finger protein 215 [Gene - HGNC]
  • SEZ6L:seizure related 6 homolog like [Gene - OMIM - HGNC]
  • SELENOM:selenoprotein M [Gene - OMIM - HGNC]
  • SGSM1:small G protein signaling modulator 1 [Gene - OMIM - HGNC]
  • SNRPD3:small nuclear ribonucleoprotein D3 polypeptide [Gene - OMIM - HGNC]
  • SMTN:smoothelin [Gene - OMIM - HGNC]
  • SLC2A11:solute carrier family 2 member 11 [Gene - OMIM - HGNC]
  • SLC35E4:solute carrier family 35 member E4 [Gene - HGNC]
  • SLC5A1:solute carrier family 5 member 1 [Gene - OMIM - HGNC]
  • SLC5A4:solute carrier family 5 member 4 [Gene - OMIM - HGNC]
  • SPECC1L:sperm antigen with calponin homology and coiled-coil domains 1 like [Gene - OMIM - HGNC]
  • SF3A1:splicing factor 3a subunit 1 [Gene - OMIM - HGNC]
  • SUSD2:sushi domain containing 2 [Gene - OMIM - HGNC]
  • SYN3:synapsin III [Gene - OMIM - HGNC]
  • TOM1:target of myb1 membrane trafficking protein [Gene - OMIM - HGNC]
  • TUG1:taurine up-regulated 1 [Gene - OMIM - HGNC]
  • TTC28:tetratricopeptide repeat domain 28 [Gene - OMIM - HGNC]
  • TCN2:transcobalamin 2 [Gene - OMIM - HGNC]
  • TMEM211:transmembrane protein 211 [Gene - HGNC]
  • TFIP11:tuftelin interacting protein 11 [Gene - OMIM - HGNC]
  • YWHAH:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta [Gene - OMIM - HGNC]
  • TPST2:tyrosylprotein sulfotransferase 2 [Gene - OMIM - HGNC]
  • UQCR10:ubiquinol-cytochrome c reductase, complex III subunit X [Gene - OMIM - HGNC]
  • ZNRF3:zinc and ring finger 3 [Gene - OMIM - HGNC]
  • ZMAT5:zinc finger matrin-type 5 [Gene - HGNC]
  • ZNF70:zinc finger protein 70 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
22q11.23-12.3
Genomic location:
Chr22: 23637907 - 36614412 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3
HGVS:
    Links:
    dbVar: nssv13654249; dbVar: nsv2769841
    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
    SCV000584501ISCA site 1

    See additional submitters

    no assertion criteria providedPathogenic
    (Jun 23, 2014)
    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, with clinical assertions as classified by the original submitter.

    SCV000584501

    Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/].

    SCV000584501

    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 1, SCV000584501.1

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

    Last Updated: Nov 6, 2019

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