U.S. flag

An official website of the United States government

GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 30, 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:
RCV000512068.3

Allele description [Variation Report for GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3]

GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3

Genes:
  • PHYKPL:5-phosphohydroxy-L-lysine phospho-lyase [Gene - OMIM - HGNC]
  • ADAMTS2:ADAM metallopeptidase with thrombospondin type 1 motif 2 [Gene - OMIM - HGNC]
  • ARL10:ADP ribosylation factor like GTPase 10 [Gene - HGNC]
  • ATP6V0E1:ATPase H+ transporting V0 subunit e1 [Gene - OMIM - HGNC]
  • BNIP1:BCL2 interacting protein 1 [Gene - OMIM - HGNC]
  • CNOT6:CCR4-NOT transcription complex subunit 6 [Gene - OMIM - HGNC]
  • CLK4:CDC like kinase 4 [Gene - OMIM - HGNC]
  • CREBRF:CREB3 regulatory factor [Gene - OMIM - HGNC]
  • DDX41:DEAD-box helicase 41 [Gene - OMIM - HGNC]
  • FAF2:Fas associated factor family member 2 [Gene - OMIM - HGNC]
  • GPRIN1:G protein regulated inducer of neurite outgrowth 1 [Gene - OMIM - HGNC]
  • GRK6:G protein-coupled receptor kinase 6 [Gene - OMIM - HGNC]
  • HIGD2A:HIG1 hypoxia inducible domain family member 2A [Gene - OMIM - HGNC]
  • KIAA1191:KIAA1191 [Gene - HGNC]
  • MXD3:MAX dimerization protein 3 [Gene - OMIM - HGNC]
  • MRNIP:MRN complex interacting protein [Gene - OMIM - HGNC]
  • N4BP3:NEDD4 binding protein 3 [Gene - OMIM - HGNC]
  • NHP2:NHP2 ribonucleoprotein [Gene - OMIM - HGNC]
  • NKX2-5:NK2 homeobox 5 [Gene - OMIM - HGNC]
  • NOP16:NOP16 nucleolar protein [Gene - OMIM - HGNC]
  • PDLIM7:PDZ and LIM domain 7 [Gene - OMIM - HGNC]
  • PRELID1:PRELI domain containing 1 [Gene - OMIM - HGNC]
  • PROP1:PROP paired-like homeobox 1 [Gene - OMIM - HGNC]
  • RAB24:RAB24, member RAS oncogene family [Gene - OMIM - HGNC]
  • RUFY1:RUN and FYVE domain containing 1 [Gene - OMIM - HGNC]
  • RASGEF1C:RasGEF domain family member 1C [Gene - HGNC]
  • SIMC1:SUMO interacting motifs containing 1 [Gene - OMIM - HGNC]
  • TBC1D9B:TBC1 domain family member 9B [Gene - OMIM - HGNC]
  • THOC3:THO complex subunit 3 [Gene - OMIM - HGNC]
  • ZFP2:ZFP2 zinc finger protein [Gene - HGNC]
  • ZFP62:ZFP62 zinc finger protein [Gene - OMIM - HGNC]
  • MGAT1:alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase [Gene - OMIM - HGNC]
  • MGAT4B:alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B [Gene - OMIM - HGNC]
  • B4GALT7:beta-1,4-galactosyltransferase 7 [Gene - OMIM - HGNC]
  • BOD1:biorientation of chromosomes in cell division 1 [Gene - OMIM - HGNC]
  • BTNL3:butyrophilin like 3 [Gene - OMIM - HGNC]
  • BTNL8:butyrophilin like 8 [Gene - OMIM - HGNC]
  • BTNL9:butyrophilin like 9 [Gene - OMIM - HGNC]
  • CDHR2:cadherin related family member 2 [Gene - OMIM - HGNC]
  • CANX:calnexin [Gene - OMIM - HGNC]
  • CBY3:chibby family member 3 [Gene - HGNC]
  • C5orf47:chromosome 5 open reading frame 47 [Gene - OMIM - HGNC]
  • C5orf60:chromosome 5 open reading frame 60 [Gene - HGNC]
  • CLTB:clathrin light chain B [Gene - OMIM - HGNC]
  • F12:coagulation factor XII [Gene - OMIM - HGNC]
  • COL23A1:collagen type XXIII alpha 1 chain [Gene - OMIM - HGNC]
  • CPLX2:complexin 2 [Gene - OMIM - HGNC]
  • CPEB4:cytoplasmic polyadenylation element binding protein 4 [Gene - OMIM - HGNC]
  • DOK3:docking protein 3 [Gene - OMIM - HGNC]
  • DRD1:dopamine receptor D1 [Gene - OMIM - HGNC]
  • DBN1:drebrin 1 [Gene - OMIM - HGNC]
  • DUSP1:dual specificity phosphatase 1 [Gene - OMIM - HGNC]
  • ERGIC1:endoplasmic reticulum-golgi intermediate compartment 1 [Gene - OMIM - HGNC]
  • EIF4E1B:eukaryotic translation initiation factor 4E family member 1B [Gene - HGNC]
  • FAM153A:family with sequence similarity 153 member A [Gene - HGNC]
  • FAM153B:family with sequence similarity 153 member B [Gene - HGNC]
  • FAM193B:family with sequence similarity 193 member B [Gene - OMIM - HGNC]
  • FGFR4:fibroblast growth factor receptor 4 [Gene - OMIM - HGNC]
  • FLT4:fms related receptor tyrosine kinase 4 [Gene - OMIM - HGNC]
  • GRM6:glutamate metabotropic receptor 6 [Gene - OMIM - HGNC]
  • GFPT2:glutamine-fructose-6-phosphate transaminase 2 [Gene - OMIM - HGNC]
  • HNRNPAB:heterogeneous nuclear ribonucleoprotein A/B [Gene - OMIM - HGNC]
  • HNRNPH1:heterogeneous nuclear ribonucleoprotein H1 [Gene - OMIM - HGNC]
  • HK3:hexokinase 3 [Gene - OMIM - HGNC]
  • HRH2:histamine receptor H2 [Gene - OMIM - HGNC]
  • LMAN2:lectin, mannose binding 2 [Gene - OMIM - HGNC]
  • LTC4S:leukotriene C4 synthase [Gene - OMIM - HGNC]
  • MAML1:mastermind like transcriptional coactivator 1 [Gene - OMIM - HGNC]
  • MAPK9:mitogen-activated protein kinase 9 [Gene - OMIM - HGNC]
  • MSX2:msh homeobox 2 [Gene - OMIM - HGNC]
  • NEURL1B:neuralized E3 ubiquitin protein ligase 1B [Gene - OMIM - HGNC]
  • NSD1:nuclear receptor binding SET domain protein 1 [Gene - OMIM - HGNC]
  • OR2V1:olfactory receptor family 2 subfamily V member 1 [Gene - HGNC]
  • OR2V2:olfactory receptor family 2 subfamily V member 2 [Gene - HGNC]
  • OR2Y1:olfactory receptor family 2 subfamily Y member 1 [Gene - HGNC]
  • PFN3:profilin 3 [Gene - OMIM - HGNC]
  • PRR7:proline rich 7, synaptic [Gene - OMIM - HGNC]
  • RACK1:receptor for activated C kinase 1 [Gene - OMIM - HGNC]
  • RGS14:regulator of G protein signaling 14 [Gene - OMIM - HGNC]
  • RMND5B:required for meiotic nuclear division 5 homolog B [Gene - HGNC]
  • RPL26L1:ribosomal protein L26 like 1 [Gene - HGNC]
  • RNF130:ring finger protein 130 [Gene - OMIM - HGNC]
  • RNF44:ring finger protein 44 [Gene - OMIM - HGNC]
  • SCGB3A1:secretoglobin family 3A member 1 [Gene - OMIM - HGNC]
  • SQSTM1:sequestosome 1 [Gene - OMIM - HGNC]
  • SFXN1:sideroflexin 1 [Gene - OMIM - HGNC]
  • SNORA74B:small nucleolar RNA, H/ACA box 74B [Gene - OMIM - HGNC]
  • SLC34A1:solute carrier family 34 member 1 [Gene - OMIM - HGNC]
  • STC2:stanniocalcin 2 [Gene - OMIM - HGNC]
  • SNCB:synuclein beta [Gene - OMIM - HGNC]
  • TRK-CTT2-3:tRNA-Lys (anticodon CTT) 2-3 [Gene - OMIM - HGNC]
  • TRP-TGG3-1:tRNA-Pro (anticodon TGG) 3-1 [Gene - OMIM - HGNC]
  • TRT-TGT6-1:tRNA-Thr (anticodon TGT) 6-1 [Gene - OMIM - HGNC]
  • TRV-AAC1-4:tRNA-Val (anticodon AAC) 1-4 [Gene - OMIM - HGNC]
  • TRV-CAC1-2:tRNA-Val (anticodon CAC) 1-2 [Gene - OMIM - HGNC]
  • TSPAN17:tetraspanin 17 [Gene - OMIM - HGNC]
  • TMED9:transmembrane p24 trafficking protein 9 [Gene - OMIM - HGNC]
  • TRIM41:tripartite motif containing 41 [Gene - OMIM - HGNC]
  • TRIM52:tripartite motif containing 52 [Gene - OMIM - HGNC]
  • TRIM7:tripartite motif containing 7 [Gene - OMIM - HGNC]
  • UIMC1:ubiquitin interaction motif containing 1 [Gene - OMIM - HGNC]
  • UNC5A:unc-5 netrin receptor A [Gene - OMIM - HGNC]
  • ZNF346:zinc finger protein 346 [Gene - OMIM - HGNC]
  • ZNF354A:zinc finger protein 354A [Gene - OMIM - HGNC]
  • ZNF354B:zinc finger protein 354B [Gene - HGNC]
  • ZNF354C:zinc finger protein 354C [Gene - OMIM - HGNC]
  • ZNF454:zinc finger protein 454 [Gene - HGNC]
  • ZNF879:zinc finger protein 879 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
5q35.1-35.3
Genomic location:
Chr5: 172031248 - 180719789 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3
HGVS:
    Links:
    dbVar: nssv13638918; dbVar: nsv2775647
    Observations:
    1

    Condition(s)

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

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000585536ISCA site 1

    See additional submitters

    no assertion criteria provided
    		Pathogenic
    (Sep 30, 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, SCV000585536.1

    #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