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GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 14, 2018
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:
RCV000849686.2

Allele description [Variation Report for GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3]

GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3

Genes:
  • HPGD:15-hydroxyprostaglandin dehydrogenase [Gene - OMIM - HGNC]
  • ADAM29:ADAM metallopeptidase domain 29 [Gene - OMIM - HGNC]
  • ARFIP1:ADP ribosylation factor interacting protein 1 [Gene - OMIM - HGNC]
  • ABCE1:ATP binding cassette subfamily E member 1 [Gene - OMIM - HGNC]
  • CDKN2AIP:CDKN2A interacting protein [Gene - OMIM - HGNC]
  • DDX60L:DExD/H-box 60 like [Gene - OMIM - HGNC]
  • DDX60:DExD/H-box helicase 60 [Gene - OMIM - HGNC]
  • ELF2:E74 like ETS transcription factor 2 [Gene - OMIM - HGNC]
  • ELMOD2:ELMO domain containing 2 [Gene - OMIM - HGNC]
  • FBXW7:F-box and WD repeat domain containing 7 [Gene - OMIM - HGNC]
  • FBXO8:F-box protein 8 [Gene - OMIM - HGNC]
  • FAT4:FAT atypical cadherin 4 [Gene - OMIM - HGNC]
  • FHDC1:FH2 domain containing 1 [Gene - OMIM - HGNC]
  • FHIP1A:FHF complex subunit HOOK interacting protein 1A [Gene - HGNC]
  • FREM3:FRAS1 related extracellular matrix 3 [Gene - OMIM - HGNC]
  • GAB1:GRB2 associated binding protein 1 [Gene - OMIM - HGNC]
  • LRBA:LPS responsive beige-like anchor protein [Gene - OMIM - HGNC]
  • LSM6:LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated [Gene - OMIM - HGNC]
  • LARP1B:La ribonucleoprotein 1B [Gene - HGNC]
  • MGAT4D:MGAT4 family member D [Gene - OMIM - HGNC]
  • NAA15:N-alpha-acetyltransferase 15, NatA auxiliary subunit [Gene - OMIM - HGNC]
  • NDUFC1:NADH:ubiquinone oxidoreductase subunit C1 [Gene - OMIM - HGNC]
  • NEK1:NIMA related kinase 1 [Gene - OMIM - HGNC]
  • OTUD4:OTU deubiquitinase 4 [Gene - OMIM - HGNC]
  • POU4F2:POU class 4 homeobox 2 [Gene - OMIM - HGNC]
  • RAB33B:RAB33B, member RAS oncogene family [Gene - OMIM - HGNC]
  • RBM46:RNA binding motif protein 46 [Gene - OMIM - HGNC]
  • RWDD4:RWD domain containing 4 [Gene - HGNC]
  • RAPGEF2:Rap guanine nucleotide exchange factor 2 [Gene - OMIM - HGNC]
  • ARHGAP10:Rho GTPase activating protein 10 [Gene - OMIM - HGNC]
  • SETD7:SET domain containing 7, histone lysine methyltransferase [Gene - OMIM - HGNC]
  • SH3D19:SH3 domain containing 19 [Gene - OMIM - HGNC]
  • SH3RF1:SH3 domain containing ring finger 1 [Gene - OMIM - HGNC]
  • SMAD1:SMAD family member 1 [Gene - OMIM - HGNC]
  • SPOCK3:SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3 [Gene - OMIM - HGNC]
  • SMARCA5:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 [Gene - OMIM - HGNC]
  • SAP30:Sin3A associated protein 30 [Gene - OMIM - HGNC]
  • TBC1D9:TBC1 domain family member 9 [Gene - OMIM - HGNC]
  • WDR17:WD repeat domain 17 [Gene - OMIM - HGNC]
  • WWC2:WW and C2 domain containing 2 [Gene - OMIM - HGNC]
  • ABHD18:abhydrolase domain containing 18 [Gene - HGNC]
  • ASIC5:acid sensing ion channel subunit family member 5 [Gene - OMIM - HGNC]
  • ANP32C:acidic nuclear phosphoprotein 32 family member C [Gene - OMIM - HGNC]
  • AADAT:aminoadipate aminotransferase [Gene - OMIM - HGNC]
  • ANAPC10:anaphase promoting complex subunit 10 [Gene - OMIM - HGNC]
  • ASB5:ankyrin repeat and SOCS box containing 5 [Gene - OMIM - HGNC]
  • ANKRD50:ankyrin repeat domain containing 50 [Gene - OMIM - HGNC]
  • ANXA10:annexin A10 [Gene - OMIM - HGNC]
  • AGA:aspartylglucosaminidase [Gene - OMIM - HGNC]
  • CLGN:calmegin [Gene - OMIM - HGNC]
  • CBR4:carbonyl reductase 4 [Gene - OMIM - HGNC]
  • CPE:carboxypeptidase E [Gene - OMIM - HGNC]
  • CTSO:cathepsin O [Gene - OMIM - HGNC]
  • CEP44:centrosomal protein 44 [Gene - OMIM - HGNC]
  • CLCN3:chloride voltage-gated channel 3 [Gene - OMIM - HGNC]
  • C4orf33:chromosome 4 open reading frame 33 [Gene - HGNC]
  • C4orf45:chromosome 4 open reading frame 45 [Gene - HGNC]
  • C4orf46:chromosome 4 open reading frame 46 [Gene - OMIM - HGNC]
  • C4orf51:chromosome 4 open reading frame 51 [Gene - HGNC]
  • CLDN22:claudin 22 [Gene - HGNC]
  • CLDN24:claudin 24 [Gene - HGNC]
  • DCTD:dCMP deaminase [Gene - OMIM - HGNC]
  • DCHS2:dachsous cadherin-related 2 [Gene - OMIM - HGNC]
  • DCLK2:doublecortin like kinase 2 [Gene - OMIM - HGNC]
  • ENPP6:ectonucleotide pyrophosphatase/phosphodiesterase 6 [Gene - OMIM - HGNC]
  • ETFDH:electron transfer flavoprotein dehydrogenase [Gene - OMIM - HGNC]
  • EDNRA:endothelin receptor type A [Gene - OMIM - HGNC]
  • FAM218A:family with sequence similarity 218 member A [Gene - HGNC]
  • FGA:fibrinogen alpha chain [Gene - OMIM - HGNC]
  • FGB:fibrinogen beta chain [Gene - OMIM - HGNC]
  • FGG:fibrinogen gamma chain [Gene - OMIM - HGNC]
  • FNIP2:folliculin interacting protein 2 [Gene - OMIM - HGNC]
  • FSTL5:follistatin like 5 [Gene - OMIM - HGNC]
  • GRIA2:glutamate ionotropic receptor AMPA type subunit 2 [Gene - OMIM - HGNC]
  • GATB:glutamyl-tRNA amidotransferase subunit B [Gene - OMIM - HGNC]
  • GLRA3:glycine receptor alpha 3 [Gene - OMIM - HGNC]
  • GLRB:glycine receptor beta [Gene - OMIM - HGNC]
  • GYPA:glycophorin A (MNS blood group) [Gene - OMIM - HGNC]
  • GYPB:glycophorin B (MNS blood group) [Gene - OMIM - HGNC]
  • GYPE:glycophorin E (MNS blood group) [Gene - OMIM - HGNC]
  • GPM6A:glycoprotein M6A [Gene - OMIM - HGNC]
  • GASK1B:golgi associated kinase 1B [Gene - HGNC]
  • GUCY1A1:guanylate cyclase 1 soluble subunit alpha 1 [Gene - OMIM - HGNC]
  • GUCY1B1:guanylate cyclase 1 soluble subunit beta 1 [Gene - OMIM - HGNC]
  • HAND2:heart and neural crest derivatives expressed 2 [Gene - OMIM - HGNC]
  • HSPA4L:heat shock protein family A (Hsp70) member 4 like [Gene - OMIM - HGNC]
  • HHIP:hedgehog interacting protein [Gene - OMIM - HGNC]
  • HMGB2:high mobility group box 2 [Gene - OMIM - HGNC]
  • HPF1:histone PARylation factor 1 [Gene - OMIM - HGNC]
  • ING2:inhibitor of growth family member 2 [Gene - OMIM - HGNC]
  • INPP4B:inositol polyphosphate-4-phosphatase type II B [Gene - OMIM - HGNC]
  • IL15:interleukin 15 [Gene - OMIM - HGNC]
  • INTU:inturned planar cell polarity protein [Gene - OMIM - HGNC]
  • JADE1:jade family PHD finger 1 [Gene - OMIM - HGNC]
  • KLHL2:kelch like family member 2 [Gene - OMIM - HGNC]
  • LRAT:lecithin retinol acyltransferase [Gene - OMIM - HGNC]
  • MAB21L2:mab-21 like 2 [Gene - OMIM - HGNC]
  • MFSD8:major facilitator superfamily domain containing 8 [Gene - OMIM - HGNC]
  • MAML3:mastermind like transcriptional coactivator 3 [Gene - OMIM - HGNC]
  • MND1:meiotic nuclear divisions 1 [Gene - OMIM - HGNC]
  • MARCHF1:membrane associated ring-CH-type finger 1 [Gene - OMIM - HGNC]
  • MMAA:metabolism of cobalamin associated A [Gene - OMIM - HGNC]
  • MSMO1:methylsterol monooxygenase 1 [Gene - OMIM - HGNC]
  • MFAP3L:microfibril associated protein 3 like [Gene - OMIM - HGNC]
  • MGST2:microsomal glutathione S-transferase 2 [Gene - OMIM - HGNC]
  • MAP9:microtubule associated protein 9 [Gene - OMIM - HGNC]
  • MGARP:mitochondria localized glutamic acid rich protein [Gene - OMIM - HGNC]
  • NEIL3:nei like DNA glycosylase 3 [Gene - OMIM - HGNC]
  • NPY1R:neuropeptide Y receptor Y1 [Gene - OMIM - HGNC]
  • NPY2R:neuropeptide Y receptor Y2 [Gene - OMIM - HGNC]
  • NPY5R:neuropeptide Y receptor Y5 [Gene - OMIM - HGNC]
  • NOCT:nocturnin [Gene - OMIM - HGNC]
  • NAF1:nuclear assembly factor 1 ribonucleoprotein [Gene - OMIM - HGNC]
  • NR3C2:nuclear receptor subfamily 3 group C member 2 [Gene - OMIM - HGNC]
  • PALLD:palladin, cytoskeletal associated protein [Gene - OMIM - HGNC]
  • PPID:peptidylprolyl isomerase D [Gene - OMIM - HGNC]
  • PDGFC:platelet derived growth factor C [Gene - OMIM - HGNC]
  • PLRG1:pleiotropic regulator 1 [Gene - OMIM - HGNC]
  • PLK4:polo like kinase 4 [Gene - OMIM - HGNC]
  • PABPC4L:poly(A) binding protein cytoplasmic 4 like [Gene - HGNC]
  • GALNT7:polypeptide N-acetylgalactosaminyltransferase 7 [Gene - OMIM - HGNC]
  • GALNTL6:polypeptide N-acetylgalactosaminyltransferase like 6 [Gene - OMIM - HGNC]
  • PGRMC2:progesterone receptor membrane component 2 [Gene - OMIM - HGNC]
  • PRMT9:protein arginine methyltransferase 9 [Gene - OMIM - HGNC]
  • PCDH10:protocadherin 10 [Gene - OMIM - HGNC]
  • PCDH18:protocadherin 18 [Gene - OMIM - HGNC]
  • RXFP1:relaxin family peptide receptor 1 [Gene - OMIM - HGNC]
  • RPS3A:ribosomal protein S3A [Gene - OMIM - HGNC]
  • RNF150:ring finger protein 150 [Gene - HGNC]
  • RNF175:ring finger protein 175 [Gene - HGNC]
  • SFRP2:secreted frizzled related protein 2 [Gene - OMIM - HGNC]
  • PRSS48:serine protease 48 [Gene - HGNC]
  • SCOC:short coiled-coil protein [Gene - HGNC]
  • SPCS3:signal peptidase complex subunit 3 [Gene - OMIM - HGNC]
  • SNORD73A:small nucleolar RNA, C/D box 73A [Gene - OMIM - HGNC]
  • SCLT1:sodium channel and clathrin linker 1 [Gene - OMIM - HGNC]
  • SLC10A7:solute carrier family 10 member 7 [Gene - OMIM - HGNC]
  • SLC25A31:solute carrier family 25 member 31 [Gene - OMIM - HGNC]
  • SLC7A11:solute carrier family 7 member 11 [Gene - OMIM - HGNC]
  • SPATA4:spermatogenesis associated 4 [Gene - OMIM - HGNC]
  • SCRG1:stimulator of chondrogenesis 1 [Gene - OMIM - HGNC]
  • STOX2:storkhead box 2 [Gene - OMIM - HGNC]
  • TENM3:teneurin transmembrane protein 3 [Gene - OMIM - HGNC]
  • TTC29:tetratricopeptide repeat domain 29 [Gene - OMIM - HGNC]
  • TIGD4:tigger transposable element derived 4 [Gene - HGNC]
  • TLR2:toll like receptor 2 [Gene - OMIM - HGNC]
  • TLL1:tolloid like 1 [Gene - OMIM - HGNC]
  • TRAPPC11:trafficking protein particle complex subunit 11 [Gene - OMIM - HGNC]
  • TKTL2:transketolase like 2 [Gene - HGNC]
  • TMA16:translation machinery associated 16 homolog [Gene - HGNC]
  • TMEM131L:transmembrane 131 like [Gene - OMIM - HGNC]
  • TMEM144:transmembrane protein 144 [Gene - HGNC]
  • TMEM154:transmembrane protein 154 [Gene - HGNC]
  • TMEM184C:transmembrane protein 184C [Gene - OMIM - HGNC]
  • TMEM192:transmembrane protein 192 [Gene - HGNC]
  • TRIM2:tripartite motif containing 2 [Gene - OMIM - HGNC]
  • TRIM60:tripartite motif containing 60 [Gene - OMIM - HGNC]
  • TRIM61:tripartite motif containing 61 [Gene - OMIM - HGNC]
  • TDO2:tryptophan 2,3-dioxygenase [Gene - OMIM - HGNC]
  • USP38:ubiquitin specific peptidase 38 [Gene - OMIM - HGNC]
  • LOC101928198:uncharacterized LOC101928198 [Gene]
  • UCP1:uncoupling protein 1 [Gene - OMIM - HGNC]
  • VEGFC:vascular endothelial growth factor C [Gene - OMIM - HGNC]
  • ZNF330:zinc finger protein 330 [Gene - OMIM - HGNC]
  • ZNF827:zinc finger protein 827 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
4q28.1-35.1
Genomic location:
Chr4: 124873497 - 185278662 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000991828Bionano Laboratories
    no assertion criteria provided
    		Pathogenic
    (Mar 14, 2018)     		unknownclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From Bionano Laboratories, SCV000991828.1

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

    Last Updated: Mar 26, 2023