U.S. flag

An official website of the United States government

GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3 AND Distal trisomy 10q

Germline classification:
Pathogenic (1 submission)
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:
RCV003458955.1

Allele description

GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3

Genes:
  • ADAM12:ADAM metallopeptidase domain 12 [Gene - OMIM - HGNC]
  • ADAM8:ADAM metallopeptidase domain 8 [Gene - OMIM - HGNC]
  • BAG3:BAG cochaperone 3 [Gene - OMIM - HGNC]
  • BBIP1:BBSome interacting protein 1 [Gene - OMIM - HGNC]
  • BNIP3:BCL2 interacting protein 3 [Gene - OMIM - HGNC]
  • BCCIP:BRCA2 and CDKN1A interacting protein [Gene - OMIM - HGNC]
  • BTBD16:BTB domain containing 16 [Gene - HGNC]
  • BUB3:BUB3 mitotic checkpoint protein [Gene - OMIM - HGNC]
  • CTBP2:C-terminal binding protein 2 [Gene - OMIM - HGNC]
  • CACUL1:CDK2 associated cullin domain 1 [Gene - OMIM - HGNC]
  • CUZD1:CUB and zona pellucida like domains 1 [Gene - OMIM - HGNC]
  • DHX32:DEAH-box helicase 32 (putative) [Gene - OMIM - HGNC]
  • DENND10:DENN domain containing 10 [Gene - HGNC]
  • DCLRE1A:DNA cross-link repair 1A [Gene - OMIM - HGNC]
  • EBF3:EBF transcription factor 3 [Gene - OMIM - HGNC]
  • EEF1AKMT2:EEF1A lysine methyltransferase 2 [Gene - OMIM - HGNC]
  • EMX2OS:EMX2 opposite strand/antisense RNA [Gene - OMIM - HGNC]
  • FHIP2A:FHF complex subunit HOOK interacting protein 2A [Gene - OMIM - HGNC]
  • GPR26:G protein-coupled receptor 26 [Gene - OMIM - HGNC]
  • GRK5:G protein-coupled receptor kinase 5 [Gene - OMIM - HGNC]
  • GFRA1:GDNF family receptor alpha 1 [Gene - OMIM - HGNC]
  • HMX2:H6 family homeobox 2 [Gene - OMIM - HGNC]
  • HMX3:H6 family homeobox 3 [Gene - OMIM - HGNC]
  • HTRA1:HtrA serine peptidase 1 [Gene - OMIM - HGNC]
  • IKZF5:IKAROS family zinc finger 5 [Gene - OMIM - HGNC]
  • JAKMIP3:Janus kinase and microtubule interacting protein 3 [Gene - OMIM - HGNC]
  • MXI1:MAX interactor 1, dimerization protein [Gene - OMIM - HGNC]
  • NHLRC2:NHL repeat containing 2 [Gene - OMIM - HGNC]
  • NKX1-2:NK1 homeobox 2 [Gene - HGNC]
  • NKX6-2:NK6 homeobox 2 [Gene - OMIM - HGNC]
  • NSMCE4A:NSE4 homolog A, SMC5-SMC6 complex component [Gene - OMIM - HGNC]
  • MGMT:O-6-methylguanine-DNA methyltransferase [Gene - OMIM - HGNC]
  • PDZD8:PDZ domain containing 8 [Gene - OMIM - HGNC]
  • PWWP2B:PWWP domain containing 2B [Gene - HGNC]
  • RAB11FIP2:RAB11 family interacting protein 2 [Gene - OMIM - HGNC]
  • RBM20:RNA binding motif protein 20 [Gene - OMIM - HGNC]
  • SEC23IP:SEC23 interacting protein [Gene - OMIM - HGNC]
  • SHOC2:SHOC2 leucine rich repeat scaffold protein [Gene - OMIM - HGNC]
  • TCERG1L-AS1:TCERG1L antisense RNA 1 [Gene - HGNC]
  • TIAL1:TIA1 cytotoxic granule associated RNA binding protein like 1 [Gene - OMIM - HGNC]
  • TRUB1:TruB pseudouridine synthase family member 1 [Gene - OMIM - HGNC]
  • VENTX:VENT homeobox [Gene - OMIM - HGNC]
  • WDR11:WD repeat domain 11 [Gene - OMIM - HGNC]
  • XPNPEP1:X-prolyl aminopeptidase 1 [Gene - OMIM - HGNC]
  • ABRAXAS2:abraxas 2, BRISC complex subunit [Gene - OMIM - HGNC]
  • ABLIM1:actin binding LIM protein 1 [Gene - OMIM - HGNC]
  • AFAP1L2:actin filament associated protein 1 like 2 [Gene - OMIM - HGNC]
  • ACADSB:acyl-CoA dehydrogenase short/branched chain [Gene - OMIM - HGNC]
  • ACSL5:acyl-CoA synthetase long chain family member 5 [Gene - OMIM - HGNC]
  • ADD3:adducin 3 [Gene - OMIM - HGNC]
  • ADGRA1:adhesion G protein-coupled receptor A1 [Gene - OMIM - HGNC]
  • ADRA2A:adrenoceptor alpha 2A [Gene - OMIM - HGNC]
  • ADRB1:adrenoceptor beta 1 [Gene - OMIM - HGNC]
  • ARMS2:age-related maculopathy susceptibility 2 [Gene - OMIM - HGNC]
  • ATE1:arginyltransferase 1 [Gene - OMIM - HGNC]
  • ATRNL1:attractin like 1 [Gene - OMIM - HGNC]
  • CALY:calcyon neuron specific vesicular protein [Gene - OMIM - HGNC]
  • CASC2:cancer susceptibility 2 [Gene - OMIM - HGNC]
  • CHST15:carbohydrate sulfotransferase 15 [Gene - OMIM - HGNC]
  • CPXM2:carboxypeptidase X, M14 family member 2 [Gene - OMIM - HGNC]
  • CASP7:caspase 7 [Gene - OMIM - HGNC]
  • C10orf120:chromosome 10 open reading frame 120 [Gene - HGNC]
  • C10orf88:chromosome 10 open reading frame 88 [Gene - OMIM - HGNC]
  • C10orf90:chromosome 10 open reading frame 90 [Gene - OMIM - HGNC]
  • CFAP46:cilia and flagella associated protein 46 [Gene - OMIM - HGNC]
  • CLRN3:clarin 3 [Gene - OMIM - HGNC]
  • CCDC172:coiled-coil domain containing 172 [Gene - HGNC]
  • CCDC186:coiled-coil domain containing 186 [Gene - OMIM - HGNC]
  • CYP2E1:cytochrome P450 family 2 subfamily E member 1 [Gene - OMIM - HGNC]
  • DOCK1:dedicator of cytokinesis 1 [Gene - OMIM - HGNC]
  • DMBT1:deleted in malignant brain tumors 1 [Gene - OMIM - HGNC]
  • DPYSL4:dihydropyrimidinase like 4 [Gene - OMIM - HGNC]
  • DUSP5:dual specificity phosphatase 5 [Gene - OMIM - HGNC]
  • EMX2:empty spiracles homeobox 2 [Gene - OMIM - HGNC]
  • ENO4:enolase 4 [Gene - OMIM - HGNC]
  • ECHS1:enoyl-CoA hydratase, short chain 1 [Gene - OMIM - HGNC]
  • EDRF1:erythroid differentiation regulatory factor 1 [Gene - OMIM - HGNC]
  • EIF3A:eukaryotic translation initiation factor 3 subunit A [Gene - OMIM - HGNC]
  • FAM204A:family with sequence similarity 204 member A [Gene - HGNC]
  • FAM24A:family with sequence similarity 24 member A [Gene - HGNC]
  • FAM24B:family with sequence similarity 24 member B [Gene - HGNC]
  • FAM53B:family with sequence similarity 53 member B [Gene - OMIM - HGNC]
  • FGFR2:fibroblast growth factor receptor 2 [Gene - OMIM - HGNC]
  • FANK1:fibronectin type III and ankyrin repeat domains 1 [Gene - OMIM - HGNC]
  • FOXI2:forkhead box I2 [Gene - OMIM - HGNC]
  • FUOM:fucose mutarotase [Gene - OMIM - HGNC]
  • GLRX3:glutaredoxin 3 [Gene - OMIM - HGNC]
  • GPAM:glycerol-3-phosphate acyltransferase, mitochondrial [Gene - OMIM - HGNC]
  • HSPA12A:heat shock protein family A (Hsp70) member 12A [Gene - OMIM - HGNC]
  • HABP2:hyaluronan binding protein 2 [Gene - OMIM - HGNC]
  • INSYN2A:inhibitory synaptic factor 2A [Gene - OMIM - HGNC]
  • INPP5A:inositol polyphosphate-5-phosphatase A [Gene - OMIM - HGNC]
  • INPP5F:inositol polyphosphate-5-phosphatase F [Gene - OMIM - HGNC]
  • KNDC1:kinase non-catalytic C-lobe domain containing 1 [Gene - OMIM - HGNC]
  • LRRC27:leucine rich repeat containing 27 [Gene - HGNC]
  • LINC01166:long intergenic non-protein coding RNA 1166 [Gene - HGNC]
  • LINC02870:long intergenic non-protein coding RNA 2870 [Gene - HGNC]
  • MKI67:marker of proliferation Ki-67 [Gene - OMIM - HGNC]
  • MMP21:matrix metallopeptidase 21 [Gene - OMIM - HGNC]
  • MCMBP:minichromosome maintenance complex binding protein [Gene - OMIM - HGNC]
  • MTG1:mitochondrial ribosome associated GTPase 1 [Gene - HGNC]
  • NANOS1:nanos C2HC-type zinc finger 1 [Gene - OMIM - HGNC]
  • NRAP:nebulin related anchoring protein [Gene - OMIM - HGNC]
  • NPS:neuropeptide S [Gene - OMIM - HGNC]
  • OAT:ornithine aminotransferase [Gene - OMIM - HGNC]
  • PNLIPRP1:pancreatic lipase related protein 1 [Gene - OMIM - HGNC]
  • PNLIPRP2:pancreatic lipase related protein 2 (gene/pseudogene) [Gene - OMIM - HGNC]
  • PNLIPRP3:pancreatic lipase related protein 3 [Gene - HGNC]
  • PNLIP:pancreatic lipase [Gene - OMIM - HGNC]
  • PRDX3:peroxiredoxin 3 [Gene - OMIM - HGNC]
  • PLPP4:phospholipid phosphatase 4 [Gene - HGNC]
  • LHPP:phospholysine phosphohistidine inorganic pyrophosphate phosphatase [Gene - OMIM - HGNC]
  • PSTK:phosphoseryl-tRNA kinase [Gene - OMIM - HGNC]
  • PLEKHA1:pleckstrin homology domain containing A1 [Gene - OMIM - HGNC]
  • PLEKHS1:pleckstrin homology domain containing S1 [Gene - HGNC]
  • PAOX:polyamine oxidase [Gene - OMIM - HGNC]
  • KCNK18:potassium two pore domain channel subfamily K member 18 [Gene - OMIM - HGNC]
  • PDCD4:programmed cell death 4 [Gene - OMIM - HGNC]
  • PRLHR:prolactin releasing hormone receptor [Gene - OMIM - HGNC]
  • PRAP1:proline rich acidic protein 1 [Gene - OMIM - HGNC]
  • PPP2R2D:protein phosphatase 2 regulatory subunit Bdelta [Gene - OMIM - HGNC]
  • PTPRE:protein tyrosine phosphatase receptor type E [Gene - OMIM - HGNC]
  • RGS10:regulator of G protein signaling 10 [Gene - OMIM - HGNC]
  • STK32C:serine/threonine kinase 32C [Gene - HGNC]
  • SPRN:shadow of prion protein [Gene - OMIM - HGNC]
  • SHTN1:shootin 1 [Gene - OMIM - HGNC]
  • SFXN4:sideroflexin 4 [Gene - OMIM - HGNC]
  • SLC18A2:solute carrier family 18 member A2 [Gene - OMIM - HGNC]
  • SPMIP5:sperm microtubule inner protein 5 [Gene - HGNC]
  • SMC3:structural maintenance of chromosomes 3 [Gene - OMIM - HGNC]
  • SMNDC1:survival motor neuron domain containing 1 [Gene - OMIM - HGNC]
  • SYCE1:synaptonemal complex central element protein 1 [Gene - OMIM - HGNC]
  • TECTB:tectorin beta [Gene - OMIM - HGNC]
  • TEX36:testis expressed 36 [Gene - HGNC]
  • TCERG1L:transcription elongation regulator 1 like [Gene - OMIM - HGNC]
  • TCF7L2:transcription factor 7 like 2 [Gene - OMIM - HGNC]
  • TACC2:transforming acidic coiled-coil containing protein 2 [Gene - OMIM - HGNC]
  • TUBGCP2:tubulin gamma complex component 2 [Gene - OMIM - HGNC]
  • TDRD1:tudor domain containing 1 [Gene - OMIM - HGNC]
  • UTF1:undifferentiated embryonic cell transcription factor 1 [Gene - OMIM - HGNC]
  • UROS:uroporphyrinogen III synthase [Gene - OMIM - HGNC]
  • VAX1:ventral anterior homeobox 1 [Gene - OMIM - HGNC]
  • VTI1A:vesicle transport through interaction with t-SNAREs 1A [Gene - OMIM - HGNC]
  • VWA2:von Willebrand factor A domain containing 2 [Gene - OMIM - HGNC]
  • ZDHHC6:zinc finger DHHC-type palmitoyltransferase 6 [Gene - OMIM - HGNC]
  • ZRANB1:zinc finger RANBP2-type containing 1 [Gene - OMIM - HGNC]
  • ZNF511:zinc finger protein 511 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
10q25.1-26.3
Genomic location:
Chr10: 111378692 - 135427143 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3
HGVS:

    Condition(s)

    Name:
    Distal trisomy 10q
    Synonyms:
    Chromosome 10, distal trisomy 10q; Distal Duplication 10q; Distal Trisomy 10q Syndrome
    Identifiers:
    MONDO: MONDO:0019884; MedGen: C2931728

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV004175899Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea
    no assertion criteria provided
    Pathogenicunknownclinical testing

    Summary from all submissions

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

    Details of each submission

    From Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, SCV004175899.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Dec 30, 2023