GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3 AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002276051.16

Allele description [Variation Report for GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3]

GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3

Genes:

OGFOD3:2-oxoglutarate and iron dependent oxygenase domain containing 3 [Gene - HGNC]
ARL16:ARF like GTPase 16 [Gene - OMIM - HGNC]
ASPSCR1:ASPSCR1 tether for SLC2A4, UBX domain containing [Gene - OMIM - HGNC]
ALYREF:Aly/REF export factor [Gene - OMIM - HGNC]
BAHCC1:BAH domain and coiled-coil containing 1 [Gene - OMIM - HGNC]
BAIAP2:BAR/IMD domain containing adaptor protein 2 [Gene - OMIM - HGNC]
C1QTNF1:C1q and TNF related 1 [Gene - OMIM - HGNC]
CASKIN2:CASK interacting protein 2 [Gene - OMIM - HGNC]
CD7:CD7 molecule [Gene - OMIM - HGNC]
FAAP100:FA core complex associated protein 100 [Gene - OMIM - HGNC]
FBF1:Fas binding factor 1 [Gene - OMIM - HGNC]
GPS1:G protein pathway suppressor 1 [Gene - OMIM - HGNC]
H3-3B:H3.3 histone B [Gene - OMIM - HGNC]
HEXD-IT1:HEXD intronic transcript 1 [Gene - HGNC]
LLGL2:LLGL scribble cell polarity complex component 2 [Gene - OMIM - HGNC]
MAFG:MAF bZIP transcription factor G [Gene - OMIM - HGNC]
MCRIP1:MAPK regulated corepressor interacting protein 1 [Gene - OMIM - HGNC]
SGSH:N-sulfoglucosamine sulfohydrolase [Gene - OMIM - HGNC]
NDUFAF8:NADH:ubiquinone oxidoreductase complex assembly factor 8 [Gene - OMIM - HGNC]
NPLOC4:NPL4 homolog, ubiquitin recognition factor [Gene - OMIM - HGNC]
RAB40B:RAB40B, member RAS oncogene family [Gene - OMIM - HGNC]
RFNG:RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase [Gene - OMIM - HGNC]
RBFOX3:RNA binding fox-1 homolog 3 [Gene - OMIM - HGNC]
RAC3:Rac family small GTPase 3 [Gene - OMIM - HGNC]
RECQL5:RecQ like helicase 5 [Gene - OMIM - HGNC]
ARHGDIA:Rho GDP dissociation inhibitor alpha [Gene - OMIM - HGNC]
SAP30BP:SAP30 binding protein [Gene - OMIM - HGNC]
SEC14L1:SEC14 like lipid binding 1 [Gene - OMIM - HGNC]
ST6GALNAC1:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 [Gene - OMIM - HGNC]
ST6GALNAC2:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 [Gene - OMIM - HGNC]
TBC1D16:TBC1 domain family member 16 [Gene - OMIM - HGNC]
TEN1:TEN1 subunit of CST complex [Gene - OMIM - HGNC]
TEPSIN:TEPSIN adaptor related protein complex 4 accessory protein [Gene - HGNC]
TIMP2:TIMP metallopeptidase inhibitor 2 [Gene - OMIM - HGNC]
TMEM105:TMEM105 long non-coding RNA [Gene - HGNC]
UBALD2:UBA like domain containing 2 [Gene - HGNC]
B3GNTL1:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 [Gene - OMIM - HGNC]
WDR45B:WD repeat domain 45B [Gene - OMIM - HGNC]
WBP2:WW domain binding protein 2 [Gene - OMIM - HGNC]
ACTG1:actin gamma 1 [Gene - OMIM - HGNC]
ACOX1:acyl-CoA oxidase 1 [Gene - OMIM - HGNC]
GAA:alpha glucosidase [Gene - OMIM - HGNC]
MGAT5B:alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B [Gene - OMIM - HGNC]
ANAPC11:anaphase promoting complex subunit 11 [Gene - OMIM - HGNC]
AATK:apoptosis associated tyrosine kinase [Gene - OMIM - HGNC]
AANAT:aralkylamine N-acetyltransferase [Gene - OMIM - HGNC]
AFMID:arylformamidase [Gene - HGNC]
BIRC5:baculoviral IAP repeat containing 5 [Gene - OMIM - HGNC]
CANT1:calcium activated nucleotidase 1 [Gene - OMIM - HGNC]
CSNK1D:casein kinase 1 delta [Gene - OMIM - HGNC]
CARD14:caspase recruitment domain family member 14 [Gene - OMIM - HGNC]
CENPX:centromere protein X [Gene - OMIM - HGNC]
CEP131:centrosomal protein 131 [Gene - OMIM - HGNC]
CHMP6:charged multivesicular body protein 6 [Gene - OMIM - HGNC]
CBX2:chromobox 2 [Gene - OMIM - HGNC]
CBX4:chromobox 4 [Gene - OMIM - HGNC]
CBX8:chromobox 8 [Gene - OMIM - HGNC]
C17orf99:chromosome 17 open reading frame 99 [Gene - HGNC]
CCDC40:coiled-coil domain 40 molecular ruler complex subunit [Gene - OMIM - HGNC]
CCDC137:coiled-coil domain containing 137 [Gene - OMIM - HGNC]
CCDC57:coiled-coil domain containing 57 [Gene - HGNC]
CDK3:cyclin dependent kinase 3 [Gene - OMIM - HGNC]
CYBC1:cytochrome b-245 chaperone 1 [Gene - OMIM - HGNC]
CYGB:cytoglobin [Gene - OMIM - HGNC]
CYTH1:cytohesin 1 [Gene - OMIM - HGNC]
DCXR:dicarbonyl and L-xylulose reductase [Gene - OMIM - HGNC]
DUS1L:dihydrouridine synthase 1 like [Gene - HGNC]
DNAH17:dynein axonemal heavy chain 17 [Gene - OMIM - HGNC]
ENPP7:ectonucleotide pyrophosphatase/phosphodiesterase 7 [Gene - OMIM - HGNC]
ENGASE:endo-beta-N-acetylglucosaminidase [Gene - OMIM - HGNC]
ENDOV:endonuclease V [Gene - OMIM - HGNC]
EVPL:envoplakin [Gene - OMIM - HGNC]
EIF4A3:eukaryotic translation initiation factor 4A3 [Gene - OMIM - HGNC]
EXOC7:exocyst complex component 7 [Gene - OMIM - HGNC]
FSCN2:fascin actin-bundling protein 2, retinal [Gene - OMIM - HGNC]
FASN:fatty acid synthase [Gene - OMIM - HGNC]
FOXJ1:forkhead box J1 [Gene - OMIM - HGNC]
FOXK2:forkhead box K2 [Gene - OMIM - HGNC]
FN3KRP:fructosamine 3 kinase related protein [Gene - OMIM - HGNC]
FN3K:fructosamine 3 kinase [Gene - OMIM - HGNC]
GALK1:galactokinase 1 [Gene - OMIM - HGNC]
GALR2:galanin receptor 2 [Gene - OMIM - HGNC]
LGALS3BP:galectin 3 binding protein [Gene - OMIM - HGNC]
GCGR:glucagon receptor [Gene - OMIM - HGNC]
QRICH2:glutamine rich 2 [Gene - OMIM - HGNC]
HGS:hepatocyte growth factor-regulated tyrosine kinase substrate [Gene - OMIM - HGNC]
HEXD:hexosaminidase D [Gene - OMIM - HGNC]
ITGB4:integrin subunit beta 4 [Gene - OMIM - HGNC]
JMJD6:jumonji domain containing 6, arginine demethylase and lysine hydroxylase [Gene - OMIM - HGNC]
LRRC45:leucine rich repeat containing 45 [Gene - HGNC]
MFSD11:major facilitator superfamily domain containing 11 [Gene - OMIM - HGNC]
MXRA7:matrix remodeling associated 7 [Gene - HGNC]
METRNL:meteorin like, glial cell differentiation regulator [Gene - OMIM - HGNC]
METTL23:methyltransferase 23, arginine [Gene - OMIM - HGNC]
MIR338:microRNA 338 [Gene - OMIM - HGNC]
MRPL12:mitochondrial ribosomal protein L12 [Gene - OMIM - HGNC]
MRPL38:mitochondrial ribosomal protein L38 [Gene - OMIM - HGNC]
MYADML2:myeloid associated differentiation marker like 2 [Gene - HGNC]
NPTX1:neuronal pentraxin 1 [Gene - OMIM - HGNC]
NPB:neuropeptide B [Gene - OMIM - HGNC]
NOTUM:notum, palmitoleoyl-protein carboxylesterase [Gene - OMIM - HGNC]
NARF:nuclear prelamin A recognition factor [Gene - OMIM - HGNC]
OXLD1:oxidoreductase like domain containing 1 [Gene - HGNC]
PCYT2:phosphate cytidylyltransferase 2, ethanolamine [Gene - OMIM - HGNC]
PGS1:phosphatidylglycerophosphate synthase 1 [Gene - OMIM - HGNC]
PDE6G:phosphodiesterase 6G [Gene - OMIM - HGNC]
PRPSAP1:phosphoribosyl pyrophosphate synthetase associated protein 1 [Gene - OMIM - HGNC]
PRCD:photoreceptor disc component [Gene - OMIM - HGNC]
P4HB:prolyl 4-hydroxylase subunit beta [Gene - OMIM - HGNC]
PPP1R27:protein phosphatase 1 regulatory subunit 27 [Gene - HGNC]
PYCR1:pyrroline-5-carboxylate reductase 1 [Gene - OMIM - HGNC]
RPTOR:regulatory associated protein of MTOR complex 1 [Gene - OMIM - HGNC]
RHBDF2:rhomboid 5 homolog 2 [Gene - OMIM - HGNC]
RNF157:ring finger protein 157 [Gene - HGNC]
RNF213:ring finger protein 213 [Gene - OMIM - HGNC]
SECTM1:secreted and transmembrane 1 [Gene - OMIM - HGNC]
SEPTIN9:septin 9 [Gene - OMIM - HGNC]
SRSF2:serine and arginine rich splicing factor 2 [Gene - OMIM - HGNC]
SRP68:signal recognition particle 68 [Gene - OMIM - HGNC]
SIRT7:sirtuin 7 [Gene - OMIM - HGNC]
SMIM5:small integral membrane protein 5 [Gene - HGNC]
SMIM6:small integral membrane protein 6 [Gene - OMIM - HGNC]
SLC16A3:solute carrier family 16 member 3 [Gene - OMIM - HGNC]
SLC25A10:solute carrier family 25 member 10 [Gene - OMIM - HGNC]
SLC26A11:solute carrier family 26 member 11 [Gene - OMIM - HGNC]
SLC38A10:solute carrier family 38 member 10 [Gene - OMIM - HGNC]
SPHK1:sphingosine kinase 1 [Gene - OMIM - HGNC]
SOCS3:suppressor of cytokine signaling 3 [Gene - OMIM - HGNC]
SYNGR2:synaptogyrin 2 [Gene - OMIM - HGNC]
TSEN54:tRNA splicing endonuclease subunit 54 [Gene - OMIM - HGNC]
TEX19:testis expressed 19 [Gene - OMIM - HGNC]
TSPAN10:tetraspanin 10 [Gene - HGNC]
TK1:thymidine kinase 1 [Gene - OMIM - HGNC]
TMC6:transmembrane channel like 6 [Gene - OMIM - HGNC]
TMC8:transmembrane channel like 8 [Gene - OMIM - HGNC]
TMEM235:transmembrane protein 235 [Gene - OMIM - HGNC]
TMEM94:transmembrane protein 94 [Gene - OMIM - HGNC]
TNRC6C:trinucleotide repeat containing adaptor 6C [Gene - OMIM - HGNC]
TRIM47:tripartite motif containing 47 [Gene - OMIM - HGNC]
TRIM65:tripartite motif containing 65 [Gene - OMIM - HGNC]
TBCD:tubulin folding cofactor D [Gene - OMIM - HGNC]
UBE2O:ubiquitin conjugating enzyme E2 O [Gene - OMIM - HGNC]
USP36:ubiquitin specific peptidase 36 [Gene - OMIM - HGNC]
UNC13D:unc-13 homolog D [Gene - OMIM - HGNC]
UNK:unk zinc finger [Gene - OMIM - HGNC]
UTS2R:urotensin 2 receptor [Gene - OMIM - HGNC]
ZACN:zinc activated ion channel [Gene - OMIM - HGNC]
ZNF750:zinc finger protein 750 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

17q25.1-25.3

Genomic location:

Chr17: 73481509 - 81043199 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3

HGVS:

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002563450	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Jul 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002563450

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Jul 1, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV002563450.16

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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