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GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 23, 2021
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:
RCV001581099.2

Allele description [Variation Report for GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3]

GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3

Genes:
  • HAAO:3-hydroxyanthranilate 3,4-dioxygenase [Gene - OMIM - HGNC]
  • AGBL5:AGBL carboxypeptidase 5 [Gene - OMIM - HGNC]
  • ALK:ALK receptor tyrosine kinase [Gene - OMIM - HGNC]
  • ASXL2:ASXL transcriptional regulator 2 [Gene - OMIM - HGNC]
  • BABAM2:BRISC and BRCA1 A complex member 2 [Gene - OMIM - HGNC]
  • CLIP4:CAP-Gly domain containing linker protein family member 4 [Gene - HGNC]
  • CEBPZ:CCAAT enhancer binding protein zeta [Gene - OMIM - HGNC]
  • CDC42EP3:CDC42 effector protein 3 [Gene - OMIM - HGNC]
  • DHX57:DExH-box helicase 57 [Gene - HGNC]
  • DNMT3A:DNA methyltransferase 3 alpha [Gene - OMIM - HGNC]
  • DNAJC27:DnaJ heat shock protein family (Hsp40) member C27 [Gene - OMIM - HGNC]
  • DNAJC5G:DnaJ heat shock protein family (Hsp40) member C5 gamma [Gene - OMIM - HGNC]
  • EFR3B:EFR3 homolog B [Gene - OMIM - HGNC]
  • EHD3:EH domain containing 3 [Gene - OMIM - HGNC]
  • EML4:EMAP like 4 [Gene - OMIM - HGNC]
  • FOSL2:FOS like 2, AP-1 transcription factor subunit [Gene - OMIM - HGNC]
  • GPATCH11:G-patch domain containing 11 [Gene - HGNC]
  • GPN1:GPN-loop GTPase 1 [Gene - OMIM - HGNC]
  • GAREM2:GRB2 associated regulator of MAPK1 subtype 2 [Gene - OMIM - HGNC]
  • HEATR5B:HEAT repeat containing 5B [Gene - OMIM - HGNC]
  • LBH:LBH regulator of WNT signaling pathway [Gene - OMIM - HGNC]
  • MORN2:MORN repeat containing 2 [Gene - HGNC]
  • NDUFAF7:NADH:ubiquinone oxidoreductase complex assembly factor 7 [Gene - OMIM - HGNC]
  • NLRC4:NLR family CARD domain containing 4 [Gene - OMIM - HGNC]
  • RAB10:RAB10, member RAS oncogene family [Gene - OMIM - HGNC]
  • RASGRP3:RAS guanyl releasing protein 3 [Gene - OMIM - HGNC]
  • ARHGEF33:Rho guanine nucleotide exchange factor 33 [Gene - HGNC]
  • SOS1:SOS Ras/Rac guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]
  • SOS1-IT1:SOS1 intronic transcript 1 [Gene - HGNC]
  • SUPT7L:SPT7 like, STAGA complex subunit gamma [Gene - OMIM - HGNC]
  • THADA:THADA armadillo repeat containing [Gene - OMIM - HGNC]
  • THUMPD2:THUMP domain containing 2 [Gene - OMIM - HGNC]
  • TOGARAM2:TOG array regulator of axonemal microtubules 2 [Gene - HGNC]
  • WDR43:WD repeat domain 43 [Gene - OMIM - HGNC]
  • YIPF4:Yip1 domain family member 4 [Gene - OMIM - HGNC]
  • ZFP36L2:ZFP36 ring finger protein like 2 [Gene - OMIM - HGNC]
  • ABHD1:abhydrolase domain containing 1 [Gene - OMIM - HGNC]
  • ADCY3:adenylate cyclase 3 [Gene - OMIM - HGNC]
  • ADGRF3:adhesion G protein-coupled receptor F3 [Gene - HGNC]
  • ATRAID:all-trans retinoic acid induced differentiation factor [Gene - OMIM - HGNC]
  • ATL2:atlastin GTPase 2 [Gene - OMIM - HGNC]
  • BIRC6:baculoviral IAP repeat containing 6 [Gene - OMIM - HGNC]
  • CIB4:calcium and integrin binding family member 4 [Gene - OMIM - HGNC]
  • CAPN13:calpain 13 [Gene - OMIM - HGNC]
  • CAPN14:calpain 14 [Gene - OMIM - HGNC]
  • CAD:carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase [Gene - OMIM - HGNC]
  • CGREF1:cell growth regulator with EF-hand domain 1 [Gene - OMIM - HGNC]
  • CENPA:centromere protein A [Gene - OMIM - HGNC]
  • CENPO:centromere protein O [Gene - OMIM - HGNC]
  • C2orf16:chromosome 2 open reading frame 16 [Gene - HGNC]
  • CCDC121:coiled-coil domain containing 121 [Gene - HGNC]
  • CDKL4:cyclin dependent kinase like 4 [Gene - HGNC]
  • CRIM1:cysteine rich transmembrane BMP regulator 1 [Gene - OMIM - HGNC]
  • CYP1B1:cytochrome P450 family 1 subfamily B member 1 [Gene - OMIM - HGNC]
  • COX7A2L:cytochrome c oxidase subunit 7A2 like [Gene - OMIM - HGNC]
  • DPYSL5:dihydropyrimidinase like 5 [Gene - OMIM - HGNC]
  • DPY30:dpy-30 histone methyltransferase complex regulatory subunit [Gene - OMIM - HGNC]
  • DRC1:dynein regulatory complex subunit 1 [Gene - OMIM - HGNC]
  • DTNB:dystrobrevin beta [Gene - OMIM - HGNC]
  • EMILIN1:elastin microfibril interfacer 1 [Gene - OMIM - HGNC]
  • EIF2AK2:eukaryotic translation initiation factor 2 alpha kinase 2 [Gene - OMIM - HGNC]
  • EIF2B4:eukaryotic translation initiation factor 2B subunit delta [Gene - OMIM - HGNC]
  • FAM166C:family with sequence similarity 166 member C [Gene - HGNC]
  • FAM98A:family with sequence similarity 98 member A [Gene - HGNC]
  • FEZ2:fasciculation and elongation protein zeta 2 [Gene - OMIM - HGNC]
  • FNDC4:fibronectin type III domain containing 4 [Gene - OMIM - HGNC]
  • GALM:galactose mutarotase [Gene - OMIM - HGNC]
  • GEMIN6:gem nuclear organelle associated protein 6 [Gene - OMIM - HGNC]
  • GTF3C2:general transcription factor IIIC subunit 2 [Gene - OMIM - HGNC]
  • GCKR:glucokinase regulator [Gene - OMIM - HGNC]
  • QPCT:glutaminyl-peptide cyclotransferase [Gene - OMIM - HGNC]
  • HNRNPLL:heterogeneous nuclear ribonucleoprotein L like [Gene - OMIM - HGNC]
  • HADHA:hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha [Gene - OMIM - HGNC]
  • HADHB:hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta [Gene - OMIM - HGNC]
  • IFT172:intraflagellar transport 172 [Gene - OMIM - HGNC]
  • KRTCAP3:keratinocyte associated protein 3 [Gene - OMIM - HGNC]
  • KHK:ketohexokinase [Gene - OMIM - HGNC]
  • KIF3C:kinesin family member 3C [Gene - OMIM - HGNC]
  • LTBP1:latent transforming growth factor beta binding protein 1 [Gene - OMIM - HGNC]
  • LINC02898:long intergenic non-protein coding RNA 2898 [Gene - HGNC]
  • LCLAT1:lysocardiolipin acyltransferase 1 [Gene - OMIM - HGNC]
  • MEMO1:mediator of cell motility 1 [Gene - OMIM - HGNC]
  • MTA3:metastasis associated 1 family member 3 [Gene - OMIM - HGNC]
  • MAPRE3:microtubule associated protein RP/EB family member 3 [Gene - OMIM - HGNC]
  • MPV17:mitochondrial inner membrane protein MPV17 [Gene - OMIM - HGNC]
  • MRPL33:mitochondrial ribosomal protein L33 [Gene - OMIM - HGNC]
  • MAP4K3:mitogen-activated protein kinase kinase kinase kinase 3 [Gene - OMIM - HGNC]
  • NRBP1:nuclear receptor binding protein 1 [Gene - OMIM - HGNC]
  • NCOA1:nuclear receptor coactivator 1 [Gene - OMIM - HGNC]
  • OST4:oligosaccharyltransferase complex subunit 4, non-catalytic [Gene - OMIM - HGNC]
  • OTOF:otoferlin [Gene - OMIM - HGNC]
  • OXER1:oxoeicosanoid receptor 1 [Gene - OMIM - HGNC]
  • PTRHD1:peptidyl-tRNA hydrolase domain containing 1 [Gene - OMIM - HGNC]
  • PLB1:phospholipase B1 [Gene - OMIM - HGNC]
  • PCARE:photoreceptor cilium actin regulator [Gene - OMIM - HGNC]
  • GALNT14:polypeptide N-acetylgalactosaminyltransferase 14 [Gene - OMIM - HGNC]
  • KCNK3:potassium two pore domain channel subfamily K member 3 [Gene - OMIM - HGNC]
  • KCNG3:potassium voltage-gated channel modifier subfamily G member 3 [Gene - OMIM - HGNC]
  • PREB:prolactin regulatory element binding [Gene - OMIM - HGNC]
  • PRR30:proline rich 30 [Gene - HGNC]
  • POMC:proopiomelanocortin [Gene - OMIM - HGNC]
  • PRKD3:protein kinase D3 [Gene - OMIM - HGNC]
  • PKDCC:protein kinase domain containing, cytoplasmic [Gene - OMIM - HGNC]
  • PPP1CB:protein phosphatase 1 catalytic subunit beta [Gene - OMIM - HGNC]
  • PPM1G:protein phosphatase, Mg2+/Mn2+ dependent 1G [Gene - OMIM - HGNC]
  • RMDN2:regulator of microtubule dynamics 2 [Gene - OMIM - HGNC]
  • RBKS:ribokinase [Gene - OMIM - HGNC]
  • SELENOI:selenoprotein I [Gene - OMIM - HGNC]
  • SRSF7:serine and arginine rich splicing factor 7 [Gene - OMIM - HGNC]
  • SLC30A3:solute carrier family 30 member 3 [Gene - OMIM - HGNC]
  • SLC30A6:solute carrier family 30 member 6 [Gene - OMIM - HGNC]
  • SLC35F6:solute carrier family 35 member F6 [Gene - OMIM - HGNC]
  • SLC4A1AP:solute carrier family 4 member 1 adaptor protein [Gene - OMIM - HGNC]
  • SLC5A6:solute carrier family 5 member 6 [Gene - OMIM - HGNC]
  • SLC8A1:solute carrier family 8 member A1 [Gene - OMIM - HGNC]
  • SNX17:sorting nexin 17 [Gene - OMIM - HGNC]
  • SPAST:spastin [Gene - OMIM - HGNC]
  • SPDYA:speedy/RINGO cell cycle regulator family member A [Gene - OMIM - HGNC]
  • SRD5A2:steroid 5 alpha-reductase 2 [Gene - OMIM - HGNC]
  • STRN:striatin [Gene - OMIM - HGNC]
  • SULT6B1:sulfotransferase family 6B member 1 [Gene - OMIM - HGNC]
  • TRMT61B:tRNA methyltransferase 61B [Gene - OMIM - HGNC]
  • TTC27:tetratricopeptide repeat domain 27 [Gene - HGNC]
  • TCF23:transcription factor 23 [Gene - OMIM - HGNC]
  • TMEM178A:transmembrane protein 178A [Gene - HGNC]
  • TMEM214:transmembrane protein 214 [Gene - OMIM - HGNC]
  • TRIM54:tripartite motif containing 54 [Gene - OMIM - HGNC]
  • UCN:urocortin [Gene - OMIM - HGNC]
  • VIT:vitrin [Gene - OMIM - HGNC]
  • XDH:xanthine dehydrogenase [Gene - OMIM - HGNC]
  • YPEL5:yippee like 5 [Gene - OMIM - HGNC]
  • ZNF512:zinc finger protein 512 [Gene - HGNC]
  • ZNF513:zinc finger protein 513 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
2p23.3-21
Genomic location:
Chr2: 24601818 - 43466284 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3
HGVS:
    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
    SCV001805857Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ
    no assertion criteria provided
    		Pathogenic
    (Feb 23, 2021)     		inheritedclinical testing

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedinheritedyes1not providednot providednot providednot providedclinical testing

    Citations

    PubMed

    Interstitial duplication of the short arm of chromosome 2: report of a new case and review.

    Mégarbané A, Souraty N, Prieur M, Theophile D, Chédid P, Augé J, Vekemans M.

    J Med Genet. 1997 Sep;34(9):783-6. Review.

    PubMed [citation]
    PMID:
    9321771
    PMCID:
    PMC1051069

    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. doi: 10.1038/s41436-021-01150-9.

    PubMed [citation]
    PMID:
    31690835
    PMCID:
    PMC7313390

    Details of each submission

    From Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ, SCV001805857.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    11not providednot providedclinical testing PubMed (2)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1inheritedyesnot providednot providednot provided1not providednot providednot provided

    Last Updated: Apr 1, 2023