GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 8, 2017
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:: RCV000846852.2

Allele description [Variation Report for GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3]

GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3

Genes:

ARL5C:ADP ribosylation factor like GTPase 5C [Gene - HGNC]
ATAD5:ATPase family AAA domain containing 5 [Gene - OMIM - HGNC]
ADAP2:ArfGAP with dual PH domains 2 [Gene - OMIM - HGNC]
CCL11:C-C motif chemokine ligand 11 [Gene - OMIM - HGNC]
CCL13:C-C motif chemokine ligand 13 [Gene - OMIM - HGNC]
CCL14:C-C motif chemokine ligand 14 [Gene - OMIM - HGNC]
CCL15:C-C motif chemokine ligand 15 [Gene - OMIM - HGNC]
CCL16:C-C motif chemokine ligand 16 [Gene - OMIM - HGNC]
CCL18:C-C motif chemokine ligand 18 [Gene - OMIM - HGNC]
CCL1:C-C motif chemokine ligand 1 [Gene - OMIM - HGNC]
CCL23:C-C motif chemokine ligand 23 [Gene - OMIM - HGNC]
CCL2:C-C motif chemokine ligand 2 [Gene - OMIM - HGNC]
CCL3L1:C-C motif chemokine ligand 3 like 1 [Gene - OMIM - HGNC]
CCL3L3:C-C motif chemokine ligand 3 like 3 [Gene - OMIM - HGNC]
CCL3:C-C motif chemokine ligand 3 [Gene - OMIM - HGNC]
CCL4L1:C-C motif chemokine ligand 4 like 1 [Gene - OMIM - HGNC]
CCL4L2:C-C motif chemokine ligand 4 like 2 [Gene - OMIM - HGNC]
CCL4:C-C motif chemokine ligand 4 [Gene - OMIM - HGNC]
CCL5:C-C motif chemokine ligand 5 [Gene - OMIM - HGNC]
CCL7:C-C motif chemokine ligand 7 [Gene - OMIM - HGNC]
CCL8:C-C motif chemokine ligand 8 [Gene - OMIM - HGNC]
CCR7:C-C motif chemokine receptor 7 [Gene - OMIM - HGNC]
CASC3:CASC3 exon junction complex subunit [Gene - OMIM - HGNC]
CISD3:CDGSH iron sulfur domain 3 [Gene - OMIM - HGNC]
CWC25:CWC25 spliceosome associated protein homolog [Gene - HGNC]
DDX52:DExD-box helicase 52 [Gene - OMIM - HGNC]
LIG3:DNA ligase 3 [Gene - OMIM - HGNC]
POLDIP2:DNA polymerase delta interacting protein 2 [Gene - OMIM - HGNC]
TOP2A:DNA topoisomerase II alpha [Gene - OMIM - HGNC]
EFCAB5:EF-hand calcium binding domain 5 [Gene - HGNC]
ERAL1:Era like 12S mitochondrial rRNA chaperone 1 [Gene - OMIM - HGNC]
FBXL20:F-box and leucine rich repeat protein 20 [Gene - OMIM - HGNC]
FBXO47:F-box protein 47 [Gene - OMIM - HGNC]
GPR179:G protein-coupled receptor 179 [Gene - OMIM - HGNC]
GIT1:GIT ArfGAP 1 [Gene - OMIM - HGNC]
HEATR9:HEAT repeat containing 9 [Gene - HGNC]
HNF1B:HNF1 homeobox B [Gene - OMIM - HGNC]
IKZF3:IKAROS family zinc finger 3 [Gene - OMIM - HGNC]
LASP1:LIM and SH3 protein 1 [Gene - OMIM - HGNC]
LHX1:LIM homeobox 1 [Gene - OMIM - HGNC]
LYRM9:LYR motif containing 9 [Gene - HGNC]
MLLT6:MLLT6, PHD finger containing [Gene - OMIM - HGNC]
MSL1:MSL complex subunit 1 [Gene - OMIM - HGNC]
MTRNR2L1:MT-RNR2 like 1 [Gene - OMIM - HGNC]
NEK8:NIMA related kinase 8 [Gene - OMIM - HGNC]
ORMDL3:ORMDL sphingolipid biosynthesis regulator 3 [Gene - OMIM - HGNC]
PHF12:PHD finger protein 12 [Gene - OMIM - HGNC]
RAB11FIP4:RAB11 family interacting protein 4 [Gene - OMIM - HGNC]
RAB34:RAB34, member RAS oncogene family [Gene - OMIM - HGNC]
RAD51D:RAD51 paralog D [Gene - OMIM - HGNC]
RDM1:RAD52 motif containing 1 [Gene - OMIM - HGNC]
RASL10B:RAS like family 10 member B [Gene - OMIM - HGNC]
RAPGEFL1:Rap guanine nucleotide exchange factor like 1 [Gene - HGNC]
ARHGAP23:Rho GTPase activating protein 23 [Gene - OMIM - HGNC]
SEBOX:SEBOX homeobox [Gene - OMIM - HGNC]
STAC2:SH3 and cysteine rich domain 2 [Gene - HGNC]
SUPT6H:SPT6 homolog, histone chaperone and transcription elongation factor [Gene - OMIM - HGNC]
SRCIN1:SRC kinase signaling inhibitor 1 [Gene - OMIM - HGNC]
SUZ12:SUZ12 polycomb repressive complex 2 subunit [Gene - OMIM - HGNC]
STARD3:StAR related lipid transfer domain containing 3 [Gene - OMIM - HGNC]
TAOK1:TAO kinase 1 [Gene - OMIM - HGNC]
TAF15:TATA-box binding protein associated factor 15 [Gene - OMIM - HGNC]
TBC1D29P:TBC1 domain family member 29, pseudogene [Gene - HGNC]
TBC1D3:TBC1 domain family member 3 [Gene - OMIM - HGNC]
TBC1D3B:TBC1 domain family member 3B [Gene - OMIM - HGNC]
TBC1D3C:TBC1 domain family member 3C [Gene - OMIM - HGNC]
TBC1D3F:TBC1 domain family member 3F [Gene - OMIM - HGNC]
TBC1D3H:TBC1 domain family member 3H [Gene - OMIM - HGNC]
TLCD1:TLC domain containing 1 [Gene - HGNC]
TMEM132E-DT:TMEM132E divergent transcript [Gene - HGNC]
TNFAIP1:TNF alpha induced protein 1 [Gene - OMIM - HGNC]
TRAF4:TNF receptor associated factor 4 [Gene - OMIM - HGNC]
UTP6:UTP6 small subunit processome component [Gene - HGNC]
WIPF2:WAS/WASL interacting protein family member 2 [Gene - OMIM - HGNC]
WSB1:WD repeat and SOCS box containing 1 [Gene - OMIM - HGNC]
ABHD15:abhydrolase domain containing 15 [Gene - OMIM - HGNC]
ACACA:acetyl-CoA carboxylase alpha [Gene - OMIM - HGNC]
ASIC2:acid sensing ion channel subunit 2 [Gene - OMIM - HGNC]
AP2B1:adaptor related protein complex 2 subunit beta 1 [Gene - OMIM - HGNC]
ALDOC:aldolase, fructose-bisphosphate C [Gene - OMIM - HGNC]
ANKRD13B:ankyrin repeat domain 13B [Gene - OMIM - HGNC]
AATF:apoptosis antagonizing transcription factor [Gene - OMIM - HGNC]
BLMH:bleomycin hydrolase [Gene - OMIM - HGNC]
BLTP2:bridge-like lipid transfer protein family member 2 [Gene - OMIM - HGNC]
CACNB1:calcium voltage-gated channel auxiliary subunit beta 1 [Gene - OMIM - HGNC]
CPD:carboxypeptidase D [Gene - OMIM - HGNC]
CDC6:cell division cycle 6 [Gene - OMIM - HGNC]
CCT6B:chaperonin containing TCP1 subunit 6B [Gene - OMIM - HGNC]
C17orf50:chromosome 17 open reading frame 50 [Gene - HGNC]
C17orf75:chromosome 17 open reading frame 75 [Gene - HGNC]
C17orf78:chromosome 17 open reading frame 78 [Gene - HGNC]
C17orf98:chromosome 17 open reading frame 98 [Gene - HGNC]
CSF3:colony stimulating factor 3 [Gene - OMIM - HGNC]
COPRS:coordinator of PRMT5 and differentiation stimulator [Gene - HGNC]
CORO6:coronin 6 [Gene - HGNC]
CRYBA1:crystallin beta A1 [Gene - OMIM - HGNC]
CDK12:cyclin dependent kinase 12 [Gene - OMIM - HGNC]
CDK5R1:cyclin dependent kinase 5 regulatory subunit 1 [Gene - OMIM - HGNC]
CRLF3:cytokine receptor like factor 3 [Gene - OMIM - HGNC]
DHRS11:dehydrogenase/reductase 11 [Gene - OMIM - HGNC]
DHRS13:dehydrogenase/reductase 13 [Gene - OMIM - HGNC]
DUSP14:dual specificity phosphatase 14 [Gene - OMIM - HGNC]
EVI2A:ecotropic viral integration site 2A [Gene - OMIM - HGNC]
EVI2B:ecotropic viral integration site 2B [Gene - OMIM - HGNC]
EPOP:elongin BC and polycomb repressive complex 2 associated protein [Gene - OMIM - HGNC]
ERBB2:erb-b2 receptor tyrosine kinase 2 [Gene - OMIM - HGNC]
FAM222B:family with sequence similarity 222 member B [Gene - HGNC]
FNDC8:fibronectin type III domain containing 8 [Gene - HGNC]
FLOT2:flotillin 2 [Gene - OMIM - HGNC]
FOXN1:forkhead box N1 [Gene - OMIM - HGNC]
LGALS9:galectin 9 [Gene - OMIM - HGNC]
GGNBP2:gametogenetin binding protein 2 [Gene - OMIM - HGNC]
GJD3:gap junction protein delta 3 [Gene - OMIM - HGNC]
GSDMA:gasdermin A [Gene - OMIM - HGNC]
GSDMB:gasdermin B [Gene - OMIM - HGNC]
GOSR1:golgi SNAP receptor complex member 1 [Gene - OMIM - HGNC]
GAS2L2:growth arrest specific 2 like 2 [Gene - OMIM - HGNC]
GRB7:growth factor receptor bound protein 7 [Gene - OMIM - HGNC]
IGFBP4:insulin like growth factor binding protein 4 [Gene - OMIM - HGNC]
IFT20:intraflagellar transport 20 [Gene - OMIM - HGNC]
KSR1:kinase suppressor of ras 1 [Gene - OMIM - HGNC]
LRRC37B:leucine rich repeat containing 37B [Gene - OMIM - HGNC]
LRRC3C:leucine rich repeat containing 3C [Gene - HGNC]
LYZL6:lysozyme like 6 [Gene - OMIM - HGNC]
MMP28:matrix metallopeptidase 28 [Gene - OMIM - HGNC]
MED1:mediator complex subunit 1 [Gene - OMIM - HGNC]
MED24:mediator complex subunit 24 [Gene - OMIM - HGNC]
MIR144:microRNA 144 [Gene - OMIM - HGNC]
MIR193A:microRNA 193a [Gene - OMIM - HGNC]
MIR451A:microRNA 451a [Gene - OMIM - HGNC]
MIEN1:migration and invasion enhancer 1 [Gene - OMIM - HGNC]
MRM1:mitochondrial rRNA methyltransferase 1 [Gene - OMIM - HGNC]
MRPL45:mitochondrial ribosomal protein L45 [Gene - OMIM - HGNC]
MYO1D:myosin ID [Gene - OMIM - HGNC]
MYO19:myosin XIX [Gene - OMIM - HGNC]
MYO18A:myosin XVIIIA [Gene - OMIM - OMIM - HGNC]
NLK:nemo like kinase [Gene - OMIM - HGNC]
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
NEUROD2:neuronal differentiation 2 [Gene - OMIM - HGNC]
NOS2:nitric oxide synthase 2 [Gene - OMIM - HGNC]
NLE1:notchless homolog 1 [Gene - HGNC]
NUFIP2:nuclear FMR1 interacting protein 2 [Gene - OMIM - HGNC]
NR1D1:nuclear receptor subfamily 1 group D member 1 [Gene - OMIM - HGNC]
NSRP1:nuclear speckle splicing regulatory protein 1 [Gene - OMIM - HGNC]
OMG:oligodendrocyte myelin glycoprotein [Gene - OMIM - HGNC]
PEX12:peroxisomal biogenesis factor 12 [Gene - OMIM - HGNC]
PNMT:phenylethanolamine N-methyltransferase [Gene - OMIM - HGNC]
PIGS:phosphatidylinositol glycan anchor biosynthesis class S [Gene - OMIM - HGNC]
PIGW:phosphatidylinositol glycan anchor biosynthesis class W [Gene - OMIM - HGNC]
PIP4K2B:phosphatidylinositol-5-phosphate 4-kinase type 2 beta [Gene - OMIM - HGNC]
PIPOX:pipecolic acid and sarcosine oxidase [Gene - OMIM - HGNC]
PLXDC1:plexin domain containing 1 [Gene - OMIM - HGNC]
PCGF2:polycomb group ring finger 2 [Gene - OMIM - HGNC]
PGAP3:post-GPI attachment to proteins phospholipase 3 [Gene - OMIM - HGNC]
PSMB3:proteasome 20S subunit beta 3 [Gene - OMIM - HGNC]
PSMD11:proteasome 26S subunit, non-ATPase 11 [Gene - OMIM - HGNC]
PSMD3:proteasome 26S subunit, non-ATPase 3 [Gene - OMIM - HGNC]
PROCA1:protein interacting with cyclin A1 [Gene - OMIM - HGNC]
PPP1R1B:protein phosphatase 1 regulatory inhibitor subunit 1B [Gene - OMIM - HGNC]
RHOT1:ras homolog family member T1 [Gene - OMIM - HGNC]
RARA:retinoic acid receptor alpha [Gene - OMIM - HGNC]
RHBDL3:rhomboid like 3 [Gene - OMIM - HGNC]
RPL19:ribosomal protein L19 [Gene - OMIM - HGNC]
RPL23:ribosomal protein L23 [Gene - OMIM - HGNC]
RPL23A:ribosomal protein L23a [Gene - OMIM - HGNC]
RFFL:ring finger and FYVE like domain containing E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
RNF135:ring finger protein 135 [Gene - OMIM - HGNC]
SLFN11:schlafen family member 11 [Gene - OMIM - HGNC]
SLFN12L:schlafen family member 12 like [Gene - OMIM - HGNC]
SLFN12:schlafen family member 12 [Gene - OMIM - HGNC]
SLFN13:schlafen family member 13 [Gene - OMIM - HGNC]
SLFN14:schlafen family member 14 [Gene - OMIM - HGNC]
SLFN5:schlafen family member 5 [Gene - OMIM - HGNC]
SEZ6:seizure related 6 homolog [Gene - OMIM - HGNC]
SSH2:slingshot protein phosphatase 2 [Gene - OMIM - HGNC]
SLC13A2:solute carrier family 13 member 2 [Gene - OMIM - HGNC]
SLC35G3:solute carrier family 35 member G3 [Gene - HGNC]
SLC46A1:solute carrier family 46 member 1 [Gene - OMIM - HGNC]
SLC6A4:solute carrier family 6 member 4 [Gene - OMIM - HGNC]
SPACA3:sperm acrosome associated 3 [Gene - OMIM - HGNC]
SPAG5:sperm associated antigen 5 [Gene - OMIM - HGNC]
SARM1:sterile alpha and TIR motif containing 1 [Gene - OMIM - HGNC]
SDF2:stromal cell derived factor 2 [Gene - OMIM - HGNC]
SOCS7:suppressor of cytokine signaling 7 [Gene - OMIM - HGNC]
SYNRG:synergin gamma [Gene - OMIM - HGNC]
TNS4:tensin 4 [Gene - OMIM - HGNC]
THRA:thyroid hormone receptor alpha [Gene - OMIM - HGNC]
TCAP:titin-cap [Gene - OMIM - HGNC]
TEFM:transcription elongation factor, mitochondrial [Gene - OMIM - HGNC]
TADA2A:transcriptional adaptor 2A [Gene - OMIM - HGNC]
TMIGD1:transmembrane and immunoglobulin domain containing 1 [Gene - HGNC]
TMEM132E:transmembrane protein 132E [Gene - OMIM - HGNC]
TMEM199:transmembrane protein 199 [Gene - OMIM - HGNC]
TMEM97:transmembrane protein 97 [Gene - OMIM - HGNC]
TMEM98:transmembrane protein 98 [Gene - OMIM - HGNC]
TP53I13:tumor protein p53 inducible protein 13 [Gene - HGNC]
UNC119:unc-119 lipid binding chaperone [Gene - OMIM - HGNC]
UNC45B:unc-45 myosin chaperone B [Gene - OMIM - HGNC]
VTN:vitronectin [Gene - OMIM - HGNC]
ZNHIT3:zinc finger HIT-type containing 3 [Gene - OMIM - HGNC]
ZNF207:zinc finger protein 207 [Gene - OMIM - HGNC]
ZNF830:zinc finger protein 830 [Gene - HGNC]
ZPBP2:zona pellucida binding protein 2 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

17p11.2-q21.2

Genomic location:

Chr17: 21690653 - 38772647 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3

HGVS:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000988974	Bionano Laboratories	no assertion criteria provided	Pathogenic (Dec 8, 2017)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000988974

Bionano Laboratories

no assertion criteria provided

Pathogenic
(Dec 8, 2017)

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Bionano Laboratories, SCV000988974.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	Buccal	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 26, 2023

ClinVar

Relating variation to medicine

GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 AND not provided

Allele description [Variation Report for GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3]

GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From Bionano Laboratories, SCV000988974.1