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GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 AND FETAL DEMISE

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:
RCV002282978.1

Allele description [Variation Report for GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3]

GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3

Genes:
  • ATP5ME:ATP synthase membrane subunit e [Gene - OMIM - HGNC]
  • ATP10D:ATPase phospholipid transporting 10D (putative) [Gene - OMIM - HGNC]
  • ATP8A1:ATPase phospholipid transporting 8A1 [Gene - OMIM - HGNC]
  • ARAP2:ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 [Gene - OMIM - HGNC]
  • BEND4:BEN domain containing 4 [Gene - HGNC]
  • CTBP1:C-terminal binding protein 1 [Gene - OMIM - HGNC]
  • C1QTNF7:C1q and TNF related 7 [Gene - HGNC]
  • CD38:CD38 molecule [Gene - OMIM - HGNC]
  • COMMD8:COMM domain containing 8 [Gene - OMIM - HGNC]
  • DCAF16:DDB1 and CUL4 associated factor 16 [Gene - HGNC]
  • DCAF4L1:DDB1 and CUL4 associated factor 4 like 1 [Gene - HGNC]
  • DHX15:DEAH-box helicase 15 [Gene - OMIM - HGNC]
  • POLN:DNA polymerase nu [Gene - OMIM - HGNC]
  • EVC:EvC ciliary complex subunit 1 [Gene - OMIM - HGNC]
  • EVC2:EvC ciliary complex subunit 2 [Gene - OMIM - HGNC]
  • FBXL5:F-box and leucine rich repeat protein 5 [Gene - OMIM - HGNC]
  • GPR78:G protein-coupled receptor 78 [Gene - OMIM - HGNC]
  • GRK4:G protein-coupled receptor kinase 4 [Gene - OMIM - HGNC]
  • GUF1:GTP binding elongation factor GUF1 [Gene - OMIM - HGNC]
  • GRPEL1:GrpE like 1, mitochondrial [Gene - OMIM - HGNC]
  • HMX1:H6 family homeobox 1 [Gene - OMIM - HGNC]
  • HAUS3:HAUS augmin like complex subunit 3 [Gene - OMIM - HGNC]
  • HGFAC:HGF activator [Gene - OMIM - HGNC]
  • HTRA3:HtrA serine peptidase 3 [Gene - OMIM - HGNC]
  • KIAA0232:KIAA0232 [Gene - OMIM - HGNC]
  • KLF3:KLF transcription factor 3 [Gene - OMIM - HGNC]
  • LRPAP1:LDL receptor related protein associated protein 1 [Gene - OMIM - HGNC]
  • LIMCH1:LIM and calponin homology domains 1 [Gene - OMIM - HGNC]
  • LDB2:LIM domain binding 2 [Gene - OMIM - HGNC]
  • LYAR:Ly1 antibody reactive [Gene - OMIM - HGNC]
  • MXD4:MAX dimerization protein 4 [Gene - OMIM - HGNC]
  • MRFAP1L1:Morf4 family associated protein 1 like 1 [Gene - HGNC]
  • MRFAP1:Morf4 family associated protein 1 [Gene - OMIM - HGNC]
  • MSANTD1:Myb/SANT DNA binding domain containing 1 [Gene - HGNC]
  • NAT8L:N-acetyltransferase 8 like [Gene - OMIM - HGNC]
  • NWD2:NACHT and WD repeat domain containing 2 [Gene - OMIM - HGNC]
  • N4BP2:NEDD4 binding protein 2 [Gene - OMIM - HGNC]
  • NKX1-1:NK1 homeobox 1 [Gene - OMIM - HGNC]
  • NKX3-2:NK3 homeobox 2 [Gene - OMIM - HGNC]
  • NOP14:NOP14 nucleolar protein [Gene - OMIM - HGNC]
  • NSUN7:NOP2/Sun RNA methyltransferase family member 7 [Gene - OMIM - HGNC]
  • PDS5A:PDS5 cohesin associated factor A [Gene - OMIM - HGNC]
  • PPARGC1A:PPARG coactivator 1 alpha [Gene - OMIM - HGNC]
  • RAB28:RAB28, member RAS oncogene family [Gene - OMIM - HGNC]
  • RELL1:RELT like 1 [Gene - OMIM - HGNC]
  • RBM47:RNA binding motif protein 47 [Gene - OMIM - HGNC]
  • S100P:S100 calcium binding protein P [Gene - OMIM - HGNC]
  • SEL1L3:SEL1L family member 3 [Gene - OMIM - HGNC]
  • SH3TC1:SH3 domain and tetratricopeptide repeats 1 [Gene - HGNC]
  • SH3BP2:SH3 domain binding protein 2 [Gene - OMIM - HGNC]
  • SEPSECS:Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase [Gene - OMIM - HGNC]
  • TBC1D14:TBC1 domain family member 14 [Gene - OMIM - HGNC]
  • TBC1D19:TBC1 domain family member 19 [Gene - HGNC]
  • TBC1D1:TBC1 domain family member 1 [Gene - OMIM - HGNC]
  • TNIP2:TNFAIP3 interacting protein 2 [Gene - OMIM - HGNC]
  • UGDH:UDP-glucose 6-dehydrogenase [Gene - OMIM - HGNC]
  • UVSSA:UV stimulated scaffold protein A [Gene - OMIM - HGNC]
  • WDR19:WD repeat domain 19 [Gene - OMIM - HGNC]
  • WDR1:WD repeat domain 1 [Gene - OMIM - HGNC]
  • YIPF7:Yip1 domain family member 7 [Gene - OMIM - HGNC]
  • ABLIM2:actin binding LIM protein family member 2 [Gene - OMIM - HGNC]
  • AFAP1:actin filament associated protein 1 [Gene - OMIM - HGNC]
  • ACOX3:acyl-CoA oxidase 3, pristanoyl [Gene - OMIM - HGNC]
  • ADD1:adducin 1 [Gene - OMIM - HGNC]
  • ADGRA3:adhesion G protein-coupled receptor A3 [Gene - OMIM - HGNC]
  • ADRA2C:adrenoceptor alpha 2C [Gene - OMIM - HGNC]
  • IDUA:alpha-L-iduronidase [Gene - OMIM - HGNC]
  • APBB2:amyloid beta precursor protein binding family B member 2 [Gene - OMIM - HGNC]
  • ANAPC4:anaphase promoting complex subunit 4 [Gene - OMIM - HGNC]
  • BLOC1S4:biogenesis of lysosomal organelles complex 1 subunit 4 [Gene - OMIM - HGNC]
  • BOD1L1:biorientation of chromosomes in cell division 1 like 1 [Gene - OMIM - HGNC]
  • BST1:bone marrow stromal cell antigen 1 [Gene - OMIM - HGNC]
  • CPZ:carboxypeptidase Z [Gene - OMIM - HGNC]
  • CCKAR:cholecystokinin A receptor [Gene - OMIM - HGNC]
  • CHRNA9:cholinergic receptor nicotinic alpha 9 subunit [Gene - OMIM - HGNC]
  • C4orf19:chromosome 4 open reading frame 19 [Gene - HGNC]
  • C4orf48:chromosome 4 open reading frame 48 [Gene - OMIM - HGNC]
  • C4orf50:chromosome 4 open reading frame 50 [Gene - HGNC]
  • CLRN2:clarin 2 [Gene - OMIM - HGNC]
  • CC2D2A:coiled-coil and C2 domain containing 2A [Gene - OMIM - HGNC]
  • CCDC149:coiled-coil domain containing 149 [Gene - HGNC]
  • CCDC96:coiled-coil domain containing 96 [Gene - OMIM - HGNC]
  • CRMP1:collapsin response mediator protein 1 [Gene - OMIM - HGNC]
  • CPLX1:complexin 1 [Gene - OMIM - HGNC]
  • GAK:cyclin G associated kinase [Gene - OMIM - HGNC]
  • CRIPAK:cysteine rich PAK1 inhibitor [Gene - OMIM - HGNC]
  • COX7B2:cytochrome c oxidase subunit 7B2 [Gene - OMIM - HGNC]
  • CLNK:cytokine dependent hematopoietic cell linker [Gene - OMIM - HGNC]
  • CYTL1:cytokine like 1 [Gene - OMIM - HGNC]
  • CPEB2:cytoplasmic polyadenylation element binding protein 2 [Gene - OMIM - HGNC]
  • DTHD1:death domain containing 1 [Gene - OMIM - HGNC]
  • DEFB131A:defensin beta 131A [Gene - HGNC]
  • DGKQ:diacylglycerol kinase theta [Gene - OMIM - HGNC]
  • DOK7:docking protein 7 [Gene - OMIM - HGNC]
  • DRD5:dopamine receptor D5 [Gene - OMIM - HGNC]
  • FAM114A1:family with sequence similarity 114 member A1 [Gene - HGNC]
  • FAM184B:family with sequence similarity 184 member B [Gene - OMIM - HGNC]
  • FAM193A:family with sequence similarity 193 member A [Gene - OMIM - HGNC]
  • FAM200B:family with sequence similarity 200 member B [Gene - HGNC]
  • FAM53A:family with sequence similarity 53 member A [Gene - OMIM - HGNC]
  • FGFBP1:fibroblast growth factor binding protein 1 [Gene - OMIM - HGNC]
  • FGFBP2:fibroblast growth factor binding protein 2 [Gene - OMIM - HGNC]
  • FGFR3:fibroblast growth factor receptor 3 [Gene - OMIM - HGNC]
  • FGFRL1:fibroblast growth factor receptor like 1 [Gene - OMIM - HGNC]
  • GABRA2:gamma-aminobutyric acid type A receptor subunit alpha2 [Gene - OMIM - HGNC]
  • GABRA4:gamma-aminobutyric acid type A receptor subunit alpha4 [Gene - OMIM - HGNC]
  • GABRB1:gamma-aminobutyric acid type A receptor subunit beta1 [Gene - OMIM - HGNC]
  • GABRG1:gamma-aminobutyric acid type A receptor subunit gamma1 [Gene - OMIM - HGNC]
  • GNPDA2:glucosamine-6-phosphate deaminase 2 [Gene - OMIM - HGNC]
  • GBA3:glucosylceramidase beta 3 (gene/pseudogene) [Gene - OMIM - HGNC]
  • GRXCR1:glutaredoxin and cysteine rich domain containing 1 [Gene - OMIM - HGNC]
  • HS3ST1:heparan sulfate-glucosamine 3-sulfotransferase 1 [Gene - OMIM - HGNC]
  • HTT:huntingtin [Gene - OMIM - HGNC]
  • JAKMIP1:janus kinase and microtubule interacting protein 1 [Gene - OMIM - HGNC]
  • KLHL5:kelch like family member 5 [Gene - OMIM - HGNC]
  • KLB:klotho beta [Gene - OMIM - HGNC]
  • LAP3:leucine aminopeptidase 3 [Gene - OMIM - HGNC]
  • LGI2:leucine rich repeat LGI family member 2 [Gene - OMIM - HGNC]
  • LETM1:leucine zipper and EF-hand containing transmembrane protein 1 [Gene - OMIM - HGNC]
  • LCORL:ligand dependent nuclear receptor corepressor like [Gene - OMIM - HGNC]
  • LIAS:lipoic acid synthetase [Gene - OMIM - HGNC]
  • LINC01587:long intergenic non-protein coding RNA 1587 [Gene - HGNC]
  • MAEA:macrophage erythroblast attacher, E3 ubiquitin ligase [Gene - OMIM - HGNC]
  • MFSD10:major facilitator superfamily domain containing 10 [Gene - OMIM - HGNC]
  • MAN2B2:mannosidase alpha class 2B member 2 [Gene - OMIM - HGNC]
  • MED28:mediator complex subunit 28 [Gene - OMIM - HGNC]
  • MIR95:microRNA 95 [Gene - OMIM - HGNC]
  • MSX1:msh homeobox 1 [Gene - OMIM - HGNC]
  • MYL5:myosin light chain 5 [Gene - OMIM - HGNC]
  • NELFA:negative elongation factor complex member A [Gene - OMIM - HGNC]
  • NSG1:neuronal vesicle trafficking associated 1 [Gene - OMIM - HGNC]
  • NCAPG:non-SMC condensin I complex subunit G [Gene - OMIM - HGNC]
  • NSD2:nuclear receptor binding SET domain protein 2 [Gene - OMIM - HGNC]
  • OTOP1:otopetrin 1 [Gene - OMIM - HGNC]
  • PHOX2B:paired like homeobox 2B [Gene - OMIM - HGNC]
  • PACRGL:parkin coregulated like [Gene - HGNC]
  • PI4K2B:phosphatidylinositol 4-kinase type 2 beta [Gene - OMIM - HGNC]
  • PIGG:phosphatidylinositol glycan anchor biosynthesis class G [Gene - OMIM - HGNC]
  • PDE6B:phosphodiesterase 6B [Gene - OMIM - HGNC]
  • PGM2:phosphoglucomutase 2 [Gene - OMIM - HGNC]
  • PTTG2:pituitary tumor-transforming 2 [Gene - OMIM - HGNC]
  • PCGF3:polycomb group ring finger 3 [Gene - OMIM - HGNC]
  • KCTD8:potassium channel tetramerization domain containing 8 [Gene - OMIM - HGNC]
  • KCNIP4:potassium voltage-gated channel interacting protein 4 [Gene - OMIM - HGNC]
  • PROM1:prominin 1 [Gene - OMIM - HGNC]
  • PSAPL1:prosaposin like 1 [Gene - HGNC]
  • PPP2R2C:protein phosphatase 2 regulatory subunit Bgamma [Gene - OMIM - HGNC]
  • PCDH7:protocadherin 7 [Gene - OMIM - HGNC]
  • QDPR:quinoid dihydropteridine reductase [Gene - OMIM - HGNC]
  • RHOH:ras homolog family member H [Gene - OMIM - HGNC]
  • RBPJ:recombination signal binding protein for immunoglobulin kappa J region [Gene - OMIM - HGNC]
  • RGS12:regulator of G protein signaling 12 [Gene - OMIM - HGNC]
  • RFC1:replication factor C subunit 1 [Gene - OMIM - HGNC]
  • RPL9:ribosomal protein L9 [Gene - OMIM - HGNC]
  • RNF212:ring finger protein 212 [Gene - OMIM - HGNC]
  • RNF4:ring finger protein 4 [Gene - OMIM - HGNC]
  • STK32B:serine/threonine kinase 32B [Gene - HGNC]
  • SHISA3:shisa family member 3 [Gene - OMIM - HGNC]
  • SLIT2:slit guidance ligand 2 [Gene - OMIM - HGNC]
  • SMIM14:small integral membrane protein 14 [Gene - HGNC]
  • SMIM20:small integral membrane protein 20 [Gene - OMIM - HGNC]
  • SLC2A9:solute carrier family 2 member 9 [Gene - OMIM - HGNC]
  • SLC26A1:solute carrier family 26 member 1 [Gene - OMIM - HGNC]
  • SLC30A9:solute carrier family 30 member 9 [Gene - OMIM - HGNC]
  • SLC34A2:solute carrier family 34 member 2 [Gene - OMIM - HGNC]
  • SLC49A3:solute carrier family 49 member 3 [Gene - HGNC]
  • SORCS2:sortilin related VPS10 domain containing receptor 2 [Gene - OMIM - HGNC]
  • SPON2:spondin 2 [Gene - OMIM - HGNC]
  • SLBP:stem-loop binding protein [Gene - OMIM - HGNC]
  • STIM2:stromal interaction molecule 2 [Gene - OMIM - HGNC]
  • SOD3:superoxide dismutase 3 [Gene - OMIM - HGNC]
  • STX18:syntaxin 18 [Gene - OMIM - HGNC]
  • TRMT44:tRNA methyltransferase 44 homolog [Gene - OMIM - HGNC]
  • TLR10:toll like receptor 10 [Gene - OMIM - HGNC]
  • TLR1:toll like receptor 1 [Gene - OMIM - HGNC]
  • TLR6:toll like receptor 6 [Gene - OMIM - HGNC]
  • TADA2B:transcriptional adaptor 2B [Gene - OMIM - HGNC]
  • TACC3:transforming acidic coiled-coil containing protein 3 [Gene - OMIM - HGNC]
  • TAPT1:transmembrane anterior posterior transformation 1 [Gene - OMIM - HGNC]
  • TMEM128:transmembrane protein 128 [Gene - HGNC]
  • TMEM129:transmembrane protein 129, E3 ubiquitin ligase [Gene - OMIM - HGNC]
  • TMEM156:transmembrane protein 156 [Gene - HGNC]
  • TMEM175:transmembrane protein 175 [Gene - OMIM - HGNC]
  • TMEM33:transmembrane protein 33 [Gene - OMIM - HGNC]
  • UCHL1:ubiquitin C-terminal hydrolase L1 [Gene - OMIM - HGNC]
  • UBE2K:ubiquitin conjugating enzyme E2 K [Gene - OMIM - HGNC]
  • USP17L10:ubiquitin specific peptidase 17 like family member 10 [Gene - HGNC]
  • USP17L11:ubiquitin specific peptidase 17 like family member 11 [Gene - HGNC]
  • USP17L12:ubiquitin specific peptidase 17 like family member 12 [Gene - HGNC]
  • USP17L13:ubiquitin specific peptidase 17 like family member 13 [Gene - HGNC]
  • USP17L15:ubiquitin specific peptidase 17 like family member 15 [Gene - HGNC]
  • USP17L17:ubiquitin specific peptidase 17 like family member 17 [Gene - HGNC]
  • USP17L18:ubiquitin specific peptidase 17 like family member 18 [Gene - HGNC]
  • USP17L19:ubiquitin specific peptidase 17 like family member 19 [Gene - HGNC]
  • USP17L20:ubiquitin specific peptidase 17 like family member 20 [Gene - HGNC]
  • USP17L21:ubiquitin specific peptidase 17 like family member 21 [Gene - HGNC]
  • USP17L22:ubiquitin specific peptidase 17 like family member 22 [Gene - HGNC]
  • USP17L24:ubiquitin specific peptidase 17 like family member 24 [Gene - HGNC]
  • USP17L25:ubiquitin specific peptidase 17 like family member 25 [Gene - HGNC]
  • USP17L26:ubiquitin specific peptidase 17 like family member 26 [Gene - HGNC]
  • USP17L27:ubiquitin specific peptidase 17 like family member 27 [Gene - HGNC]
  • USP17L28:ubiquitin specific peptidase 17 like family member 28 [Gene - HGNC]
  • USP17L29:ubiquitin specific peptidase 17 like family member 29 [Gene - HGNC]
  • USP17L30:ubiquitin specific peptidase 17 like family member 30 [Gene - HGNC]
  • USP17L5:ubiquitin specific peptidase 17 like family member 5 [Gene - HGNC]
  • WFS1:wolframin ER transmembrane glycoprotein [Gene - OMIM - HGNC]
  • ZCCHC4:zinc finger CCHC-type containing 4 [Gene - OMIM - HGNC]
  • ZFYVE28:zinc finger FYVE-type containing 28 [Gene - OMIM - HGNC]
  • ZBTB49:zinc finger and BTB domain containing 49 [Gene - OMIM - HGNC]
  • ZNF141:zinc finger protein 141 [Gene - OMIM - HGNC]
  • ZNF518B:zinc finger protein 518B [Gene - OMIM - HGNC]
  • ZNF718:zinc finger protein 718 [Gene - HGNC]
  • ZNF721:zinc finger protein 721 [Gene - HGNC]
  • ZNF732:zinc finger protein 732 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
4p16.3-12
Genomic location:
Chr4: 114784 - 47569569 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3
HGVS:

    Condition(s)

    Name:
    FETAL DEMISE
    Identifiers:

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    Assertion and evidence details

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    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002570172Cytogenetics, Genetics Associates, Inc.
    no assertion criteria provided
    		Pathogenicunknownclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From Cytogenetics, Genetics Associates, Inc., SCV002570172.1

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

    Last Updated: Mar 26, 2023