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GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3 AND 14q22.2q24.3 duplication

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 19, 2020
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:
RCV001506967.2

Allele description [Variation Report for GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3]

GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3

Genes:
  • AKAP5:A-kinase anchoring protein 5 [Gene - OMIM - HGNC]
  • ADAM20:ADAM metallopeptidase domain 20 [Gene - OMIM - HGNC]
  • ADAM21:ADAM metallopeptidase domain 21 [Gene - OMIM - HGNC]
  • ARID4A:AT-rich interaction domain 4A [Gene - OMIM - HGNC]
  • ABCD4:ATP binding cassette subfamily D member 4 [Gene - OMIM - HGNC]
  • ATP6V1D:ATPase H+ transporting V1 subunit D [Gene - OMIM - HGNC]
  • CHURC1-FNTB:CHURC1-FNTB readthrough [Gene - HGNC]
  • DCAF4:DDB1 and CUL4 associated factor 4 [Gene - OMIM - HGNC]
  • DCAF5:DDB1 and CUL4 associated factor 5 [Gene - OMIM - HGNC]
  • DLGAP5:DLG associated protein 5 [Gene - OMIM - HGNC]
  • ERH:ERH mRNA splicing and mitosis factor [Gene - OMIM - HGNC]
  • FBXO34:F-box protein 34 [Gene - OMIM - HGNC]
  • FAM161B:FAM161 centrosomal protein B [Gene - HGNC]
  • FCF1:FCF1 rRNA-processing protein [Gene - HGNC]
  • FOS:Fos proto-oncogene, AP-1 transcription factor subunit [Gene - OMIM - HGNC]
  • GPR135:G protein-coupled receptor 135 [Gene - OMIM - HGNC]
  • GCH1:GTP cyclohydrolase 1 [Gene - OMIM - HGNC]
  • HEATR4:HEAT repeat containing 4 [Gene - HGNC]
  • HIF1A-AS2:HIF1A antisense RNA 2 [Gene - OMIM - HGNC]
  • JKAMP:JNK1/MAPK8 associated membrane protein [Gene - OMIM - HGNC]
  • KIAA0586:KIAA0586 [Gene - OMIM - HGNC]
  • MNAT1:MNAT1 component of CDK activating kinase [Gene - OMIM - HGNC]
  • MAX:MYC associated factor X [Gene - OMIM - HGNC]
  • NAA30:N-alpha-acetyltransferase 30, NatC catalytic subunit [Gene - OMIM - HGNC]
  • NEK9:NIMA related kinase 9 [Gene - OMIM - HGNC]
  • NPC2:NPC intracellular cholesterol transporter 2 [Gene - OMIM - HGNC]
  • NUMB:NUMB endocytic adaptor protein [Gene - OMIM - HGNC]
  • PNMA1:PNMA family member 1 [Gene - OMIM - HGNC]
  • RAB15:RAB15, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAD51B:RAD51 paralog B [Gene - OMIM - HGNC]
  • RBM25:RNA binding motif protein 25 [Gene - OMIM - HGNC]
  • SIX1:SIX homeobox 1 [Gene - OMIM - HGNC]
  • SIX4:SIX homeobox 4 [Gene - OMIM - HGNC]
  • SIX6:SIX homeobox 6 [Gene - OMIM - HGNC]
  • SMOC1:SPARC related modular calcium binding 1 [Gene - OMIM - HGNC]
  • TBPL2:TATA-box binding protein like 2 [Gene - OMIM - HGNC]
  • WDHD1:WD repeat and HMG-box DNA binding protein 1 [Gene - OMIM - HGNC]
  • WDR89:WD repeat domain 89 [Gene - HGNC]
  • YLPM1:YLP motif containing 1 [Gene - OMIM - HGNC]
  • ZFP36L1:ZFP36 ring finger protein like 1 [Gene - OMIM - HGNC]
  • ACTR10:actin related protein 10 [Gene - OMIM - HGNC]
  • ACTN1:actinin alpha 1 [Gene - OMIM - HGNC]
  • ACOT1:acyl-CoA thioesterase 1 [Gene - OMIM - HGNC]
  • ACOT2:acyl-CoA thioesterase 2 [Gene - OMIM - HGNC]
  • ACOT4:acyl-CoA thioesterase 4 [Gene - OMIM - HGNC]
  • ACOT6:acyl-CoA thioesterase 6 [Gene - OMIM - HGNC]
  • ACYP1:acylphosphatase 1 [Gene - OMIM - HGNC]
  • AP5M1:adaptor related protein complex 5 subunit mu 1 [Gene - OMIM - HGNC]
  • ALDH6A1:aldehyde dehydrogenase 6 family member A1 [Gene - OMIM - HGNC]
  • AREL1:apoptosis resistant E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • ARG2:arginase 2 [Gene - OMIM - HGNC]
  • ARMH4:armadillo like helical domain containing 4 [Gene - HGNC]
  • ATG14:autophagy related 14 [Gene - OMIM - HGNC]
  • BBOF1:basal body orientation factor 1 [Gene - HGNC]
  • CGRRF1:cell growth regulator with ring finger domain 1 [Gene - OMIM - HGNC]
  • C14orf39:chromosome 14 open reading frame 39 [Gene - OMIM - HGNC]
  • CHURC1:churchill domain containing 1 [Gene - OMIM - HGNC]
  • COQ6:coenzyme Q6, monooxygenase [Gene - OMIM - HGNC]
  • CCDC175:coiled-coil domain containing 175 [Gene - HGNC]
  • CCDC177:coiled-coil domain containing 177 [Gene - HGNC]
  • CCDC198:coiled-coil domain containing 198 [Gene - HGNC]
  • CNIH1:cornichon family AMPA receptor auxiliary protein 1 [Gene - OMIM - HGNC]
  • CDKN3:cyclin dependent kinase inhibitor 3 [Gene - OMIM - HGNC]
  • COX16:cytochrome c oxidase assembly factor COX16 [Gene - OMIM - HGNC]
  • DHRS7:dehydrogenase/reductase 7 [Gene - OMIM - HGNC]
  • DLST:dihydrolipoamide S-succinyltransferase [Gene - OMIM - HGNC]
  • DAAM1:dishevelled associated activator of morphogenesis 1 [Gene - OMIM - HGNC]
  • DACT1:dishevelled binding antagonist of beta catenin 1 [Gene - OMIM - HGNC]
  • DPF3:double PHD fingers 3 [Gene - OMIM - HGNC]
  • DNAL1:dynein axonemal light chain 1 [Gene - OMIM - HGNC]
  • ENTPD5:ectonucleoside triphosphate diphosphohydrolase 5 (inactive) [Gene - OMIM - HGNC]
  • ESR2:estrogen receptor 2 [Gene - OMIM - HGNC]
  • EIF2S1:eukaryotic translation initiation factor 2 subunit alpha [Gene - OMIM - HGNC]
  • EIF2B2:eukaryotic translation initiation factor 2B subunit beta [Gene - OMIM - HGNC]
  • EXOC5:exocyst complex component 5 [Gene - OMIM - HGNC]
  • EXD2:exonuclease 3'-5' domain containing 2 [Gene - OMIM - HGNC]
  • FNTB:farnesyltransferase, CAAX box, beta [Gene - OMIM - HGNC]
  • FUT8:fucosyltransferase 8 [Gene - OMIM - HGNC]
  • LGALS3:galectin 3 [Gene - OMIM - HGNC]
  • GPHN:gephyrin [Gene - OMIM - HGNC]
  • GMFB:glia maturation factor beta [Gene - OMIM - HGNC]
  • GPX2:glutathione peroxidase 2 [Gene - OMIM - HGNC]
  • GPHB5:glycoprotein hormone subunit beta 5 [Gene - OMIM - HGNC]
  • GARIN2:golgi associated RAB2 interactor family member 2 [Gene - OMIM - HGNC]
  • HSPA2:heat shock protein family A (Hsp70) member 2 [Gene - OMIM - HGNC]
  • HIF1A:hypoxia inducible factor 1 subunit alpha [Gene - OMIM - HGNC]
  • ISCA2:iron-sulfur cluster assembly 2 [Gene - OMIM - HGNC]
  • KTN1:kinectin 1 [Gene - OMIM - HGNC]
  • LTBP2:latent transforming growth factor beta binding protein 2 [Gene - OMIM - HGNC]
  • LIN52:lin-52 DREAM MuvB core complex component [Gene - HGNC]
  • MED6:mediator complex subunit 6 [Gene - OMIM - HGNC]
  • MTHFD1:methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 [Gene - OMIM - HGNC]
  • MAPK1IP1L:mitogen-activated protein kinase 1 interacting protein 1 like [Gene - OMIM - HGNC]
  • MAP3K9:mitogen-activated protein kinase kinase kinase 9 [Gene - OMIM - HGNC]
  • MIDEAS:mitotic deacetylase associated SANT domain protein [Gene - HGNC]
  • MLH3:mutL homolog 3 [Gene - OMIM - HGNC]
  • OTX2:orthodenticle homeobox 2 [Gene - OMIM - HGNC]
  • PAPLN:papilin, proteoglycan like sulfated glycoprotein [Gene - OMIM - HGNC]
  • PCNX1:pecanex 1 [Gene - OMIM - HGNC]
  • PCNX4:pecanex 4 [Gene - HGNC]
  • PELI2:pellino E3 ubiquitin protein ligase family member 2 [Gene - OMIM - HGNC]
  • PIGH:phosphatidylinositol glycan anchor biosynthesis class H [Gene - OMIM - HGNC]
  • PGF:placental growth factor [Gene - OMIM - HGNC]
  • PLEK2:pleckstrin 2 [Gene - OMIM - HGNC]
  • PLEKHG3:pleckstrin homology and RhoGEF domain containing G3 [Gene - OMIM - HGNC]
  • PLEKHD1:pleckstrin homology and coiled-coil domain containing D1 [Gene - HGNC]
  • PLEKHH1:pleckstrin homology, MyTH4 and FERM domain containing H1 [Gene - HGNC]
  • GALNT16:polypeptide N-acetylgalactosaminyltransferase 16 [Gene - OMIM - HGNC]
  • KCNH5:potassium voltage-gated channel subfamily H member 5 [Gene - OMIM - HGNC]
  • PSEN1:presenilin 1 [Gene - OMIM - HGNC]
  • PROX2:prospero homeobox 2 [Gene - OMIM - HGNC]
  • PTGR2:prostaglandin reductase 2 [Gene - OMIM - HGNC]
  • PSMA3:proteasome 20S subunit alpha 3 [Gene - OMIM - HGNC]
  • PALS1:protein associated with LIN7 1, MAGUK p55 family member [Gene - OMIM - HGNC]
  • PRKCH:protein kinase C eta [Gene - OMIM - HGNC]
  • PPP1R36:protein phosphatase 1 regulatory subunit 36 [Gene - OMIM - HGNC]
  • PPP2R5E:protein phosphatase 2 regulatory subunit B'epsilon [Gene - OMIM - HGNC]
  • PPM1A:protein phosphatase, Mg2+/Mn2+ dependent 1A [Gene - OMIM - HGNC]
  • RHOJ:ras homolog family member J [Gene - OMIM - HGNC]
  • RGS6:regulator of G protein signaling 6 [Gene - OMIM - HGNC]
  • RTN1:reticulon 1 [Gene - OMIM - HGNC]
  • RDH11:retinol dehydrogenase 11 [Gene - OMIM - HGNC]
  • RDH12:retinol dehydrogenase 12 [Gene - OMIM - HGNC]
  • RIOX1:ribosomal oxygenase 1 [Gene - OMIM - HGNC]
  • RPS6KL1:ribosomal protein S6 kinase like 1 [Gene - HGNC]
  • SRSF5:serine and arginine rich splicing factor 5 [Gene - OMIM - HGNC]
  • SIPA1L1:signal induced proliferation associated 1 like 1 [Gene - OMIM - HGNC]
  • SNAPC1:small nuclear RNA activating complex polypeptide 1 [Gene - OMIM - HGNC]
  • SLC10A1:solute carrier family 10 member 1 [Gene - OMIM - HGNC]
  • SLC35F4:solute carrier family 35 member F4 [Gene - HGNC]
  • SLC38A6:solute carrier family 38 member 6 [Gene - OMIM - HGNC]
  • SLC39A9:solute carrier family 39 member 9 [Gene - OMIM - HGNC]
  • SLC8A3:solute carrier family 8 member A3 [Gene - OMIM - HGNC]
  • SPTB:spectrin beta, erythrocytic [Gene - OMIM - HGNC]
  • SYNE2:spectrin repeat containing nuclear envelope protein 2 [Gene - OMIM - HGNC]
  • SGPP1:sphingosine-1-phosphate phosphatase 1 [Gene - OMIM - HGNC]
  • SAMD4A:sterile alpha motif domain containing 4A [Gene - OMIM - HGNC]
  • SOCS4:suppressor of cytokine signaling 4 [Gene - OMIM - HGNC]
  • SUSD6:sushi domain containing 6 [Gene - OMIM - HGNC]
  • SYNDIG1L:synapse differentiation inducing 1 like [Gene - OMIM - HGNC]
  • SYNJ2BP:synaptojanin 2 binding protein [Gene - OMIM - HGNC]
  • SYT16:synaptotagmin 16 [Gene - OMIM - HGNC]
  • TRMT5:tRNA methyltransferase 5 [Gene - OMIM - HGNC]
  • TTC9:tetratricopeptide repeat domain 9 [Gene - OMIM - HGNC]
  • L3HYPDH:trans-L-3-hydroxyproline dehydratase [Gene - OMIM - HGNC]
  • TIMM9:translocase of inner mitochondrial membrane 9 [Gene - OMIM - HGNC]
  • TOMM20L:translocase of outer mitochondrial membrane 20 like [Gene - HGNC]
  • TMED10:transmembrane p24 trafficking protein 10 [Gene - OMIM - HGNC]
  • TMEM229B:transmembrane protein 229B [Gene - OMIM - HGNC]
  • TMEM260:transmembrane protein 260 [Gene - OMIM - HGNC]
  • TMEM30B:transmembrane protein 30B [Gene - OMIM - HGNC]
  • VRTN:vertebrae development associated [Gene - HGNC]
  • VTI1B:vesicle transport through interaction with t-SNAREs 1B [Gene - OMIM - HGNC]
  • VSX2:visual system homeobox 2 [Gene - OMIM - HGNC]
  • ZC2HC1C:zinc finger C2HC-type containing 1C [Gene - HGNC]
  • ZFYVE1:zinc finger FYVE-type containing 1 [Gene - OMIM - HGNC]
  • ZFYVE26:zinc finger FYVE-type containing 26 [Gene - OMIM - HGNC]
  • ZBTB1:zinc finger and BTB domain containing 1 [Gene - OMIM - HGNC]
  • ZBTB25:zinc finger and BTB domain containing 25 [Gene - OMIM - HGNC]
  • ZNF410:zinc finger protein 410 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
14q22.2-24.3
Genomic location:
Chr14: 54654001 - 75828024 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3
HGVS:

    Condition(s)

    Name:
    14q22.2q24.3 duplication
    Identifiers:

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV001653691Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ
    no assertion criteria provided
    		Likely pathogenic
    (Nov 19, 2020)     		de novoclinical testing

    PubMed (2)
    [See all records that cite these PMIDs]

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

    Citations

    PubMed

    CHARGE association in a child with de novo inverted duplication (14)(q22-->q24.3).

    North KN, Wu BL, Cao BN, Whiteman DA, Korf BR.

    Am J Med Genet. 1995 Jul 17;57(4):610-4.

    PubMed [citation]
    PMID:
    7573139

    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

    Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

    Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230.

    PubMed [citation]
    PMID:
    31690835
    PMCID:
    PMC7313390

    Details of each submission

    From Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ, SCV001653691.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providedclinical testing PubMed (2)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1de novoyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Apr 1, 2023