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GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 16, 2014
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:
RCV000510981.3

Allele description [Variation Report for GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3]

GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3

Genes:
  • MTR:5-methyltetrahydrofolate-homocysteine methyltransferase [Gene - OMIM - HGNC]
  • ARF1:ADP ribosylation factor 1 [Gene - OMIM - HGNC]
  • AKT3:AKT serine/threonine kinase 3 [Gene - OMIM - HGNC]
  • ARV1:ARV1 homolog, fatty acid homeostasis modulator [Gene - OMIM - HGNC]
  • AHCTF1:AT-hook containing transcription factor 1 [Gene - OMIM - HGNC]
  • ARID4B:AT-rich interaction domain 4B [Gene - OMIM - HGNC]
  • ABCB10:ATP binding cassette subfamily B member 10 [Gene - OMIM - HGNC]
  • CDC42BPA:CDC42 binding protein kinase alpha [Gene - OMIM - HGNC]
  • CHML:CHM like Rab escort protein [Gene - OMIM - HGNC]
  • DISC1:DISC1 scaffold protein [Gene - OMIM - HGNC]
  • EDARADD:EDAR associated via death domain [Gene - OMIM - HGNC]
  • EFCAB2:EF-hand calcium binding domain 2 [Gene - OMIM - HGNC]
  • ENAH:ENAH actin regulator [Gene - OMIM - HGNC]
  • FBXO28:F-box protein 28 [Gene - OMIM - HGNC]
  • GNG4:G protein subunit gamma 4 [Gene - OMIM - HGNC]
  • GPR137B:G protein-coupled receptor 137B [Gene - OMIM - HGNC]
  • H2AC25:H2A clustered histone 25 [Gene - OMIM - HGNC]
  • H2BC26:H2B clustered histone 26 [Gene - OMIM - HGNC]
  • H3-3A:H3.3 histone A [Gene - OMIM - HGNC]
  • H3-4:H3.4 histone, cluster member [Gene - OMIM - HGNC]
  • HEATR1:HEAT repeat containing 1 [Gene - OMIM - HGNC]
  • LYPD8:LY6/PLAUR domain containing 8 [Gene - OMIM - HGNC]
  • MIXL1:Mix paired-like homeobox [Gene - OMIM - HGNC]
  • NLRP3:NLR family pyrin domain containing 3 [Gene - OMIM - HGNC]
  • RAB4A:RAB4A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RBM34:RNA binding motif protein 34 [Gene - OMIM - HGNC]
  • SPHAR:S-phase response (cyclin related) [Gene - HGNC]
  • SDE2:SDE2 telomere maintenance homolog [Gene - OMIM - HGNC]
  • SMYD3:SET and MYND domain containing 3 [Gene - OMIM - HGNC]
  • SH3BP5L:SH3 binding domain protein 5 like [Gene - OMIM - HGNC]
  • SDCCAG8:SHH signaling and ciliogenesis regulator SDCCAG8 [Gene - OMIM - HGNC]
  • SPRTN:SprT-like N-terminal domain [Gene - OMIM - HGNC]
  • TARBP1:TAR (HIV-1) RNA binding protein 1 [Gene - OMIM - HGNC]
  • TAF5L:TATA-box binding protein associated factor 5 like [Gene - HGNC]
  • URB2:URB2 ribosome biogenesis homolog [Gene - OMIM - HGNC]
  • WDR26:WD repeat domain 26 [Gene - OMIM - HGNC]
  • WDR64:WD repeat domain 64 [Gene - HGNC]
  • WNT3A:Wnt family member 3A [Gene - OMIM - HGNC]
  • WNT9A:Wnt family member 9A [Gene - OMIM - HGNC]
  • ACTA1:actin alpha 1, skeletal muscle [Gene - OMIM - HGNC]
  • ACTN2:actinin alpha 2 [Gene - OMIM - HGNC]
  • ACBD3:acyl-CoA binding domain containing 3 [Gene - OMIM - HGNC]
  • ADSS2:adenylosuccinate synthase 2 [Gene - OMIM - HGNC]
  • AGT:angiotensinogen [Gene - OMIM - HGNC]
  • B3GALNT2:beta-1,3-N-acetylgalactosaminyltransferase 2 [Gene - OMIM - HGNC]
  • BTNL10:butyrophilin like 10 [Gene - HGNC]
  • CAPN9:calpain 9 [Gene - OMIM - HGNC]
  • CATSPERE:catsper channel auxiliary subunit epsilon [Gene - OMIM - HGNC]
  • CCSAP:centriole, cilia and spindle associated protein [Gene - OMIM - HGNC]
  • CEP170:centrosomal protein 170 [Gene - OMIM - HGNC]
  • CHRM3:cholinergic receptor muscarinic 3 [Gene - OMIM - HGNC]
  • C1orf131:chromosome 1 open reading frame 131 [Gene - HGNC]
  • C1orf198:chromosome 1 open reading frame 198 [Gene - HGNC]
  • C1orf35:chromosome 1 open reading frame 35 [Gene - HGNC]
  • COQ8A:coenzyme Q8A [Gene - OMIM - HGNC]
  • COG2:component of oligomeric golgi complex 2 [Gene - OMIM - HGNC]
  • CNST:consortin, connexin sorting protein [Gene - OMIM - HGNC]
  • CNIH3:cornichon family AMPA receptor auxiliary protein 3 [Gene - HGNC]
  • CNIH4:cornichon family member 4 [Gene - OMIM - HGNC]
  • COA6:cytochrome c oxidase assembly factor 6 [Gene - OMIM - HGNC]
  • COX20:cytochrome c oxidase assembly factor COX20 [Gene - OMIM - HGNC]
  • DEGS1:delta 4-desaturase, sphingolipid 1 [Gene - OMIM - HGNC]
  • DESI2:desumoylating isopeptidase 2 [Gene - OMIM - HGNC]
  • DISC2:disrupted in schizophrenia 2 [Gene - OMIM - HGNC]
  • DNAH14:dynein axonemal heavy chain 14 [Gene - OMIM - HGNC]
  • EGLN1:egl-9 family hypoxia inducible factor 1 [Gene - OMIM - HGNC]
  • ERO1B:endoplasmic reticulum oxidoreductase 1 beta [Gene - OMIM - HGNC]
  • EPHX1:epoxide hydrolase 1 [Gene - OMIM - HGNC]
  • EXOC8:exocyst complex component 8 [Gene - OMIM - HGNC]
  • EXO1:exonuclease 1 [Gene - OMIM - HGNC]
  • FAM89A:family with sequence similarity 89 member A [Gene - HGNC]
  • FMN2:formin 2 [Gene - OMIM - HGNC]
  • FH:fumarate hydratase [Gene - OMIM - HGNC]
  • LGALS8:galectin 8 [Gene - OMIM - HGNC]
  • GJC2:gap junction protein gamma 2 [Gene - OMIM - HGNC]
  • GGPS1:geranylgeranyl diphosphate synthase 1 [Gene - OMIM - HGNC]
  • GCSAML:germinal center associated signaling and motility like [Gene - HGNC]
  • GNPAT:glyceronephosphate O-acyltransferase [Gene - OMIM - HGNC]
  • GREM2:gremlin 2, DAN family BMP antagonist [Gene - OMIM - HGNC]
  • GUK1:guanylate kinase 1 [Gene - OMIM - HGNC]
  • HNRNPU:heterogeneous nuclear ribonucleoprotein U [Gene - OMIM - HGNC]
  • ITPKB:inositol-trisphosphate 3-kinase B [Gene - OMIM - HGNC]
  • IRF2BP2:interferon regulatory factor 2 binding protein 2 [Gene - OMIM - HGNC]
  • IBA57:iron-sulfur cluster assembly factor IBA57 [Gene - OMIM - HGNC]
  • JMJD4:jumonji domain containing 4 [Gene - HGNC]
  • KIF26B:kinesin family member 26B [Gene - OMIM - HGNC]
  • KMO:kynurenine 3-monooxygenase [Gene - OMIM - HGNC]
  • LBR:lamin B receptor [Gene - OMIM - HGNC]
  • LEFTY1:left-right determination factor 1 [Gene - OMIM - HGNC]
  • LEFTY2:left-right determination factor 2 [Gene - OMIM - HGNC]
  • LIN9:lin-9 DREAM MuvB core complex component [Gene - OMIM - HGNC]
  • LNCATV:lncRNA negative regulator of antiviral signaling [Gene - HGNC]
  • LINC02897:long intergenic non-protein coding RNA 2897 [Gene - HGNC]
  • LYST:lysosomal trafficking regulator [Gene - OMIM - HGNC]
  • MT1HL1:metallothionein 1H like 1 [Gene - HGNC]
  • MAP1LC3C:microtubule associated protein 1 light chain 3 gamma [Gene - OMIM - HGNC]
  • MAP10:microtubule associated protein 10 [Gene - OMIM - HGNC]
  • MRPL55:mitochondrial ribosomal protein L55 [Gene - OMIM - HGNC]
  • MAP3K21:mitogen-activated protein kinase kinase kinase 21 [Gene - OMIM - HGNC]
  • NID1:nidogen 1 [Gene - OMIM - HGNC]
  • NVL:nuclear VCP like [Gene - OMIM - HGNC]
  • NUP133:nucleoporin 133 [Gene - OMIM - HGNC]
  • NTPCR:nucleoside-triphosphatase, cancer-related [Gene - HGNC]
  • OBSCN:obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [Gene - OMIM - HGNC]
  • OR1C1:olfactory receptor family 1 subfamily C member 1 [Gene - HGNC]
  • OR11L1:olfactory receptor family 11 subfamily L member 1 [Gene - HGNC]
  • OR13G1:olfactory receptor family 13 subfamily G member 1 [Gene - OMIM - HGNC]
  • OR14A16:olfactory receptor family 14 subfamily A member 16 [Gene - HGNC]
  • OR14C36:olfactory receptor family 14 subfamily C member 36 [Gene - HGNC]
  • OR14I1:olfactory receptor family 14 subfamily I member 1 [Gene - OMIM - HGNC]
  • OR2AK2:olfactory receptor family 2 subfamily AK member 2 [Gene - HGNC]
  • OR2B11:olfactory receptor family 2 subfamily B member 11 [Gene - HGNC]
  • OR2C3:olfactory receptor family 2 subfamily C member 3 [Gene - HGNC]
  • OR2G2:olfactory receptor family 2 subfamily G member 2 [Gene - HGNC]
  • OR2G3:olfactory receptor family 2 subfamily G member 3 [Gene - HGNC]
  • OR2G6:olfactory receptor family 2 subfamily G member 6 [Gene - HGNC]
  • OR2L13:olfactory receptor family 2 subfamily L member 13 [Gene - HGNC]
  • OR2L2:olfactory receptor family 2 subfamily L member 2 [Gene - HGNC]
  • OR2L3:olfactory receptor family 2 subfamily L member 3 [Gene - HGNC]
  • OR2L5:olfactory receptor family 2 subfamily L member 5 [Gene - HGNC]
  • OR2L8:olfactory receptor family 2 subfamily L member 8 [Gene - HGNC]
  • OR2M2:olfactory receptor family 2 subfamily M member 2 [Gene - HGNC]
  • OR2M3:olfactory receptor family 2 subfamily M member 3 [Gene - HGNC]
  • OR2M4:olfactory receptor family 2 subfamily M member 4 [Gene - HGNC]
  • OR2M5:olfactory receptor family 2 subfamily M member 5 [Gene - HGNC]
  • OR2M7:olfactory receptor family 2 subfamily M member 7 [Gene - OMIM - HGNC]
  • OR2T10:olfactory receptor family 2 subfamily T member 10 [Gene - HGNC]
  • OR2T11:olfactory receptor family 2 subfamily T member 11 [Gene - HGNC]
  • OR2T12:olfactory receptor family 2 subfamily T member 12 [Gene - HGNC]
  • OR2T1:olfactory receptor family 2 subfamily T member 1 [Gene - HGNC]
  • OR2T27:olfactory receptor family 2 subfamily T member 27 [Gene - HGNC]
  • OR2T29:olfactory receptor family 2 subfamily T member 29 [Gene - HGNC]
  • OR2T2:olfactory receptor family 2 subfamily T member 2 [Gene - HGNC]
  • OR2T33:olfactory receptor family 2 subfamily T member 33 [Gene - HGNC]
  • OR2T34:olfactory receptor family 2 subfamily T member 34 [Gene - HGNC]
  • OR2T35:olfactory receptor family 2 subfamily T member 35 [Gene - HGNC]
  • OR2T3:olfactory receptor family 2 subfamily T member 3 [Gene - HGNC]
  • OR2T4:olfactory receptor family 2 subfamily T member 4 [Gene - HGNC]
  • OR2T5:olfactory receptor family 2 subfamily T member 5 [Gene - HGNC]
  • OR2T6:olfactory receptor family 2 subfamily T member 6 [Gene - HGNC]
  • OR2T8:olfactory receptor family 2 subfamily T member 8 [Gene - HGNC]
  • OR2W3:olfactory receptor family 2 subfamily W member 3 [Gene - OMIM - HGNC]
  • OR6F1:olfactory receptor family 6 subfamily F member 1 [Gene - HGNC]
  • OPN3:opsin 3 [Gene - OMIM - HGNC]
  • PCNX2:pecanex 2 [Gene - OMIM - HGNC]
  • PLD5:phospholipase D family member 5 [Gene - HGNC]
  • PGBD2:piggyBac transposable element derived 2 [Gene - HGNC]
  • PGBD5:piggyBac transposable element derived 5 [Gene - OMIM - HGNC]
  • PARP1:poly(ADP-ribose) polymerase 1 [Gene - OMIM - HGNC]
  • GALNT2:polypeptide N-acetylgalactosaminyltransferase 2 [Gene - OMIM - HGNC]
  • KCNK1:potassium two pore domain channel subfamily K member 1 [Gene - OMIM - HGNC]
  • PSEN2:presenilin 2 [Gene - OMIM - HGNC]
  • PYCR2:pyrroline-5-carboxylate reductase 2 [Gene - OMIM - HGNC]
  • RHOU:ras homolog family member U [Gene - OMIM - HGNC]
  • RGS7:regulator of G protein signaling 7 [Gene - OMIM - HGNC]
  • RNF187:ring finger protein 187 [Gene - OMIM - HGNC]
  • RYR2:ryanodine receptor 2 [Gene - OMIM - HGNC]
  • SCCPDH:saccharopine dehydrogenase (putative) [Gene - HGNC]
  • PRSS38:serine protease 38 [Gene - HGNC]
  • SIPA1L2:signal induced proliferation associated 1 like 2 [Gene - OMIM - HGNC]
  • SRP9:signal recognition particle 9 [Gene - OMIM - HGNC]
  • SLC35F3:solute carrier family 35 member F3 [Gene - HGNC]
  • SPMIP3:sperm microtubule inner protein 3 [Gene - HGNC]
  • STUM:stum, mechanosensory transduction mediator homolog [Gene - HGNC]
  • SNAP47:synaptosome associated protein 47 [Gene - OMIM - HGNC]
  • TTC13:tetratricopeptide repeat domain 13 [Gene - HGNC]
  • TFB2M:transcription factor B2, mitochondrial [Gene - OMIM - HGNC]
  • TSNAX:translin associated factor X [Gene - OMIM - HGNC]
  • TOMM20:translocase of outer mitochondrial membrane 20 [Gene - OMIM - HGNC]
  • TMEM63A:transmembrane protein 63A [Gene - OMIM - HGNC]
  • TRIM11:tripartite motif containing 11 [Gene - OMIM - HGNC]
  • TRIM17:tripartite motif containing 17 [Gene - OMIM - HGNC]
  • TRIM58:tripartite motif containing 58 [Gene - OMIM - HGNC]
  • TRIM67:tripartite motif containing 67 [Gene - OMIM - HGNC]
  • TBCE:tubulin folding cofactor E [Gene - OMIM - HGNC]
  • VN1R5:vomeronasal 1 receptor 5 (gene/pseudogene) [Gene - HGNC]
  • ZBTB18:zinc finger and BTB domain containing 18 [Gene - OMIM - HGNC]
  • ZNF124:zinc finger protein 124 [Gene - OMIM - HGNC]
  • ZNF496:zinc finger protein 496 [Gene - OMIM - HGNC]
  • ZNF669:zinc finger protein 669 [Gene - HGNC]
  • ZNF670:zinc finger protein 670 [Gene - HGNC]
  • ZNF672:zinc finger protein 672 [Gene - HGNC]
  • ZNF678:zinc finger protein 678 [Gene - HGNC]
  • ZNF692:zinc finger protein 692 [Gene - OMIM - HGNC]
  • ZNF695:zinc finger protein 695 [Gene - OMIM - HGNC]
  • ZP4:zona pellucida glycoprotein 4 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1q42.11-44
Genomic location:
Chr1: 224105294 - 249224684 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3
HGVS:
    Links:
    dbVar: nssv13638586; dbVar: nsv2770052
    Observations:
    1

    Condition(s)

    Name:
    See cases [See the Variation display for details]
    Identifiers:

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    Assertion and evidence details

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    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000584541ISCA site 1

    See additional submitters

    no assertion criteria provided
    		Pathogenic
    (Sep 16, 2014)     		unknownclinical testing

    PubMed (1)
    [See all records that cite this PMID]

    Help

    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, SCV000584541.1

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

    Last Updated: May 7, 2024