GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 AND See cases
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 29, 2019
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV001194594.1
Allele description [Variation Report for GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3]
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)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]
- FRYL:FRY like transcription coactivator [Gene - 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]
- NIPAL1:NIPA like domain containing 1 [Gene - 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]
- OCIAD1:OCIA domain containing 1 [Gene - OMIM - HGNC]
- OCIAD2:OCIA domain containing 2 [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]
- SLAIN2:SLAIN motif family member 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]
- TXK:TXK tyrosine kinase [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]
- CWH43:cell wall biogenesis 43 C-terminal homolog [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]
- CORIN:corin, serine peptidase [Gene - OMIM - HGNC]
- CNGA1:cyclic nucleotide gated channel subunit alpha 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]
- NFXL1:nuclear transcription factor, X-box binding like 1 [Gene - 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]
- SLC10A4:solute carrier family 10 member 4 [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]
- TEC:tec protein tyrosine kinase [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]
- ZNF595:zinc finger protein 595 [Gene - HGNC]
- ZNF718:zinc finger protein 718 [Gene - HGNC]
- ZNF721:zinc finger protein 721 [Gene - HGNC]
- ZNF732:zinc finger protein 732 [Gene - HGNC]
- ZAR1:zygote arrest 1 [Gene - OMIM - HGNC]
- Variant type:
- copy number gain
- Cytogenetic location:
- 4p16.3-11
- Genomic location:
- Chr4: 49450 - 49620898 (on Assembly GRCh37)
- Preferred name:
- GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3
- HGVS:
- This HGVS expression did not pass validation
- Observations:
- 1
Condition(s)
- Name:
- See cases [See the Variation display for details]
- Identifiers:
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001364242 | Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington | criteria provided, single submitter (Clinical Cytogenomics Laboratory Policy on CNV Interpretation) | Pathogenic (Oct 29, 2019) | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | unknown | yes | 1 | 1 | not provided | not provided | not provided | clinical testing |
Citations
PubMed
de Almeida JC, Reis DF, Llerena JĂșnior JC.
Ann Genet. 1991;34(2):108-10.
PubMed [citation]
- PMID:
- 1746879
Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?
Karmous-Benailly H, Tabet AC, Thaly A, Dupuy O, Huten Y, Luton D, Baumann C, Delezoide AL.
Prenat Diagn. 2005 Mar;25(3):193-7.
PubMed [citation]
- PMID:
- 15791668
Details of each submission
From Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington, SCV001364242.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (4) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | yes | not provided | Amniocytes | not provided | 1 | not provided | 1 | not provided |
Last Updated: Mar 26, 2023