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GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 2, 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:
RCV000683866.1

Allele description [Variation Report for GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3]

GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3

Genes:
  • ABR:ABR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
  • ADPRM:ADP-ribose/CDP-alcohol diphosphatase, manganese dependent [Gene - HGNC]
  • ATP1B2:ATPase Na+/K+ transporting subunit beta 2 [Gene - OMIM - HGNC]
  • ATP2A3:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 [Gene - OMIM - HGNC]
  • ACAP1:ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 [Gene - OMIM - HGNC]
  • BCL6B:BCL6B transcription repressor [Gene - OMIM - HGNC]
  • BORCS6:BLOC-1 related complex subunit 6 [Gene - OMIM - HGNC]
  • CXCL16:C-X-C motif chemokine ligand 16 [Gene - OMIM - HGNC]
  • CLEC10A:C-type lectin domain containing 10A [Gene - OMIM - HGNC]
  • CD68:CD68 molecule [Gene - OMIM - HGNC]
  • CRK:CRK proto-oncogene, adaptor protein [Gene - OMIM - HGNC]
  • CTC1:CST telomere replication complex component 1 [Gene - OMIM - HGNC]
  • CTDNEP1:CTD nuclear envelope phosphatase 1 [Gene - OMIM - HGNC]
  • DHX33:DEAH-box helicase 33 [Gene - OMIM - HGNC]
  • EMC6:ER membrane protein complex subunit 6 [Gene - OMIM - HGNC]
  • FBXO39:F-box protein 39 [Gene - OMIM - HGNC]
  • FXR2:FMR1 autosomal homolog 2 [Gene - OMIM - HGNC]
  • GPS2:G protein pathway suppressor 2 [Gene - OMIM - HGNC]
  • GABARAP:GABA type A receptor-associated protein [Gene - OMIM - HGNC]
  • HIC1:HIC ZBTB transcriptional repressor 1 [Gene - OMIM - HGNC]
  • KIAA0753:KIAA0753 [Gene - OMIM - HGNC]
  • KRBA2:KRAB-A domain containing 2 [Gene - OMIM - HGNC]
  • MNT:MAX network transcriptional repressor [Gene - OMIM - HGNC]
  • MIS12:MIS12 kinetochore complex component [Gene - OMIM - HGNC]
  • MYBBP1A:MYB binding protein 1a [Gene - OMIM - HGNC]
  • NAA38:N-alpha-acetyltransferase 38, NatC auxiliary subunit [Gene - OMIM - HGNC]
  • NLRP1:NLR family pyrin domain containing 1 [Gene - OMIM - HGNC]
  • OVCA2:OVCA2 serine hydrolase domain containing [Gene - OMIM - HGNC]
  • PHF23:PHD finger protein 23 [Gene - OMIM - HGNC]
  • PIMREG:PICALM interacting mitotic regulator [Gene - OMIM - HGNC]
  • PITPNM3:PITPNM family member 3 [Gene - OMIM - HGNC]
  • RANGRF:RAN guanine nucleotide release factor [Gene - OMIM - HGNC]
  • RAP1GAP2:RAP1 GTPase activating protein 2 [Gene - OMIM - HGNC]
  • POLR2A:RNA polymerase II subunit A [Gene - OMIM - HGNC]
  • RPAIN:RPA interacting protein [Gene - OMIM - HGNC]
  • RILP:Rab interacting lysosomal protein [Gene - OMIM - HGNC]
  • ARHGEF15:Rho guanine nucleotide exchange factor 15 [Gene - OMIM - HGNC]
  • SMYD4:SET and MYND domain containing 4 [Gene - OMIM - HGNC]
  • SCIMP:SLP adaptor and CSK interacting membrane protein [Gene - OMIM - HGNC]
  • SMG6:SMG6 nonsense mediated mRNA decay factor [Gene - OMIM - HGNC]
  • SPEM2:SPEM family member 2 [Gene - HGNC]
  • SPNS2:SPNS lysolipid transporter 2, sphingosine-1-phosphate [Gene - OMIM - HGNC]
  • SPNS3:SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative) [Gene - OMIM - HGNC]
  • SOX15:SRY-box transcription factor 15 [Gene - OMIM - HGNC]
  • SENP3:SUMO specific peptidase 3 [Gene - OMIM - HGNC]
  • TLCD2:TLC domain containing 2 [Gene - HGNC]
  • TLCD3A:TLC domain containing 3A [Gene - OMIM - HGNC]
  • TNFSF12:TNF superfamily member 12 [Gene - OMIM - HGNC]
  • TNFSF13:TNF superfamily member 13 [Gene - OMIM - HGNC]
  • TNFSF12-TNFSF13:TNFSF12-TNFSF13 readthrough [Gene - HGNC]
  • TSR1:TSR1 ribosome maturation factor [Gene - OMIM - HGNC]
  • TAX1BP3:Tax1 binding protein 3 [Gene - OMIM - HGNC]
  • VPS53:VPS53 subunit of GARP complex [Gene - OMIM - HGNC]
  • WRAP53:WD repeat containing antisense to TP53 [Gene - OMIM - HGNC]
  • WDR81:WD repeat domain 81 [Gene - OMIM - HGNC]
  • WSCD1:WSC domain containing 1 [Gene - OMIM - HGNC]
  • XAF1:XIAP associated factor 1 [Gene - OMIM - HGNC]
  • YBX2:Y-box binding protein 2 [Gene - OMIM - HGNC]
  • ZFP3:ZFP3 zinc finger protein [Gene - OMIM - HGNC]
  • ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
  • ANKFY1:ankyrin repeat and FYVE domain containing 1 [Gene - OMIM - HGNC]
  • ALOX12B:arachidonate 12-lipoxygenase, 12R type [Gene - OMIM - HGNC]
  • ALOX12:arachidonate 12-lipoxygenase, 12S type [Gene - OMIM - HGNC]
  • ALOX15B:arachidonate 15-lipoxygenase type B [Gene - OMIM - HGNC]
  • ALOX15:arachidonate 15-lipoxygenase [Gene - OMIM - HGNC]
  • ALOXE3:arachidonate epidermal lipoxygenase 3 [Gene - OMIM - HGNC]
  • ARRB2:arrestin beta 2 [Gene - OMIM - HGNC]
  • AIPL1:aryl hydrocarbon receptor interacting protein like 1 [Gene - OMIM - HGNC]
  • ASGR1:asialoglycoprotein receptor 1 [Gene - OMIM - HGNC]
  • ASGR2:asialoglycoprotein receptor 2 [Gene - OMIM - HGNC]
  • ASPA:aspartoacylase [Gene - OMIM - HGNC]
  • AURKB:aurora kinase B [Gene - OMIM - HGNC]
  • BHLHA9:basic helix-loop-helix family member a9 [Gene - OMIM - HGNC]
  • CAMKK1:calcium/calmodulin dependent protein kinase kinase 1 [Gene - OMIM - HGNC]
  • CAMTA2:calmodulin binding transcription activator 2 [Gene - OMIM - HGNC]
  • CNTROB:centrobin, centriole duplication and spindle assembly protein [Gene - OMIM - HGNC]
  • CHRNB1:cholinergic receptor nicotinic beta 1 subunit [Gene - OMIM - HGNC]
  • CHRNE:cholinergic receptor nicotinic epsilon subunit [Gene - OMIM - HGNC]
  • CHD3:chromodomain helicase DNA binding protein 3 [Gene - OMIM - HGNC]
  • C17orf100:chromosome 17 open reading frame 100 [Gene - HGNC]
  • C17orf107:chromosome 17 open reading frame 107 [Gene - HGNC]
  • C17orf49:chromosome 17 open reading frame 49 [Gene - OMIM - HGNC]
  • CFAP52:cilia and flagella associated protein 52 [Gene - OMIM - HGNC]
  • CLDN7:claudin 7 [Gene - OMIM - HGNC]
  • CLUH:clustered mitochondria homolog [Gene - OMIM - HGNC]
  • CCDC42:coiled-coil domain containing 42 [Gene - HGNC]
  • C1QBP:complement C1q binding protein [Gene - OMIM - HGNC]
  • CTNS:cystinosin, lysosomal cystine transporter [Gene - OMIM - HGNC]
  • CYB5D1:cytochrome b5 domain containing 1 [Gene - HGNC]
  • CYB5D2:cytochrome b5 domain containing 2 [Gene - HGNC]
  • DHRS7C:dehydrogenase/reductase 7C [Gene - OMIM - HGNC]
  • DERL2:derlin 2 [Gene - OMIM - HGNC]
  • DPH1:diphthamide biosynthesis 1 [Gene - OMIM - HGNC]
  • DLG4:discs large MAGUK scaffold protein 4 [Gene - OMIM - HGNC]
  • DVL2:dishevelled segment polarity protein 2 [Gene - OMIM - HGNC]
  • DOC2B:double C2 domain beta [Gene - OMIM - HGNC]
  • DNAH2:dynein axonemal heavy chain 2 [Gene - OMIM - HGNC]
  • ELP5:elongator acetyltransferase complex subunit 5 [Gene - OMIM - HGNC]
  • ENO3:enolase 3 [Gene - OMIM - HGNC]
  • EFNB3:ephrin B3 [Gene - OMIM - HGNC]
  • EIF4A1:eukaryotic translation initiation factor 4A1 [Gene - OMIM - HGNC]
  • EIF5A:eukaryotic translation initiation factor 5A [Gene - OMIM - HGNC]
  • FGF11:fibroblast growth factor 11 [Gene - OMIM - HGNC]
  • GGT6:gamma-glutamyltransferase 6 [Gene - OMIM - HGNC]
  • GEMIN4:gem nuclear organelle associated protein 4 [Gene - OMIM - HGNC]
  • GLP2R:glucagon like peptide 2 receptor [Gene - OMIM - HGNC]
  • GLTPD2:glycolipid transfer protein domain containing 2 [Gene - OMIM - HGNC]
  • GP1BA:glycoprotein Ib platelet subunit alpha [Gene - OMIM - HGNC]
  • GLOD4:glyoxalase domain containing 4 [Gene - OMIM - HGNC]
  • GAS7:growth arrest specific 7 [Gene - OMIM - HGNC]
  • GUCY2D:guanylate cyclase 2D, retinal [Gene - OMIM - HGNC]
  • HES7:hes family bHLH transcription factor 7 [Gene - OMIM - HGNC]
  • HASPIN:histone H3 associated protein kinase [Gene - OMIM - HGNC]
  • INCA1:inhibitor of CDK, cyclin A1 interacting protein 1 [Gene - OMIM - HGNC]
  • INPP5K:inositol polyphosphate-5-phosphatase K [Gene - OMIM - HGNC]
  • ITGAE:integrin subunit alpha E [Gene - OMIM - HGNC]
  • KIF1C:kinesin family member 1C [Gene - OMIM - HGNC]
  • LIAT1:ligand of ATE1 [Gene - HGNC]
  • KDM6B:lysine demethylase 6B [Gene - OMIM - HGNC]
  • MFSD6L:major facilitator superfamily domain containing 6 like [Gene - HGNC]
  • MPDU1:mannose-P-dolichol utilization defect 1 [Gene - OMIM - HGNC]
  • MED11:mediator complex subunit 11 [Gene - OMIM - HGNC]
  • MED31:mediator complex subunit 31 [Gene - OMIM - HGNC]
  • METTL16:methyltransferase 16, RNA N6-adenosine [Gene - HGNC]
  • MIR132:microRNA 132 [Gene - OMIM - HGNC]
  • MIR195:microRNA 195 [Gene - OMIM - HGNC]
  • MIR212:microRNA 212 [Gene - OMIM - HGNC]
  • MIR22:microRNA 22 [Gene - OMIM - HGNC]
  • MIR497HG:mir-497-195 cluster host gene [Gene - HGNC]
  • MINK1:misshapen like kinase 1 [Gene - OMIM - HGNC]
  • MRM3:mitochondrial rRNA methyltransferase 3 [Gene - OMIM - HGNC]
  • MYO1C:myosin IC [Gene - OMIM - HGNC]
  • MYH10:myosin heavy chain 10 [Gene - OMIM - HGNC]
  • MYH13:myosin heavy chain 13 [Gene - OMIM - HGNC]
  • MYH1:myosin heavy chain 1 [Gene - OMIM - HGNC]
  • MYH2:myosin heavy chain 2 [Gene - OMIM - HGNC]
  • MYH3:myosin heavy chain 3 [Gene - OMIM - HGNC]
  • MYH4:myosin heavy chain 4 [Gene - OMIM - HGNC]
  • MYH8:myosin heavy chain 8 [Gene - OMIM - HGNC]
  • NTN1:netrin 1 [Gene - OMIM - HGNC]
  • NEURL4:neuralized E3 ubiquitin protein ligase 4 [Gene - OMIM - HGNC]
  • NLGN2:neuroligin 2 [Gene - OMIM - HGNC]
  • NCBP3:nuclear cap binding subunit 3 [Gene - OMIM - HGNC]
  • NUP88:nucleoporin 88 [Gene - OMIM - HGNC]
  • NXN:nucleoredoxin [Gene - OMIM - HGNC]
  • NDEL1:nudE neurodevelopment protein 1 like 1 [Gene - OMIM - HGNC]
  • OR1A1:olfactory receptor family 1 subfamily A member 1 [Gene - OMIM - HGNC]
  • OR1A2:olfactory receptor family 1 subfamily A member 2 [Gene - OMIM - HGNC]
  • OR1D2:olfactory receptor family 1 subfamily D member 2 [Gene - OMIM - HGNC]
  • OR1D5:olfactory receptor family 1 subfamily D member 5 [Gene - HGNC]
  • OR1E1:olfactory receptor family 1 subfamily E member 1 [Gene - HGNC]
  • OR1E2:olfactory receptor family 1 subfamily E member 2 [Gene - HGNC]
  • OR1G1:olfactory receptor family 1 subfamily G member 1 [Gene - HGNC]
  • OR3A1:olfactory receptor family 3 subfamily A member 1 [Gene - HGNC]
  • OR3A2:olfactory receptor family 3 subfamily A member 2 [Gene - HGNC]
  • OR3A3:olfactory receptor family 3 subfamily A member 3 [Gene - HGNC]
  • ODF4:outer dense fiber of sperm tails 4 [Gene - OMIM - HGNC]
  • PER1:period circadian regulator 1 [Gene - OMIM - HGNC]
  • PITPNA:phosphatidylinositol transfer protein alpha [Gene - OMIM - HGNC]
  • PIRT:phosphoinositide interacting regulator of transient receptor potential channels [Gene - OMIM - HGNC]
  • PIK3R5:phosphoinositide-3-kinase regulatory subunit 5 [Gene - OMIM - HGNC]
  • PIK3R6:phosphoinositide-3-kinase regulatory subunit 6 [Gene - OMIM - HGNC]
  • PLD2:phospholipase D2 [Gene - OMIM - HGNC]
  • PLSCR3:phospholipid scramblase 3 [Gene - OMIM - HGNC]
  • PFAS:phosphoribosylformylglycinamidine synthase [Gene - OMIM - HGNC]
  • PAFAH1B1:platelet activating factor acetylhydrolase 1b regulatory subunit 1 [Gene - OMIM - HGNC]
  • KCTD11:potassium channel tetramerization domain containing 11 [Gene - OMIM - HGNC]
  • KCNAB3:potassium voltage-gated channel subfamily A regulatory beta subunit 3 [Gene - OMIM - HGNC]
  • PRPF8:pre-mRNA processing factor 8 [Gene - OMIM - HGNC]
  • PFN1:profilin 1 [Gene - OMIM - HGNC]
  • PELP1:proline, glutamate and leucine rich protein 1 [Gene - OMIM - HGNC]
  • PSMB6:proteasome 20S subunit beta 6 [Gene - OMIM - HGNC]
  • P2RX1:purinergic receptor P2X 1 [Gene - OMIM - HGNC]
  • P2RX5:purinergic receptor P2X 5 [Gene - OMIM - HGNC]
  • RABEP1:rabaptin, RAB GTPase binding effector protein 1 [Gene - OMIM - HGNC]
  • RPH3AL:rabphilin 3A like (without C2 domains) [Gene - OMIM - HGNC]
  • RCVRN:recoverin [Gene - OMIM - HGNC]
  • RFLNB:refilin B [Gene - OMIM - HGNC]
  • RPA1:replication protein A1 [Gene - OMIM - HGNC]
  • RTN4RL1:reticulon 4 receptor like 1 [Gene - OMIM - HGNC]
  • RNASEK:ribonuclease K [Gene - OMIM - HGNC]
  • RPL26:ribosomal protein L26 [Gene - OMIM - HGNC]
  • RNF167:ring finger protein 167 [Gene - OMIM - HGNC]
  • RNF222:ring finger protein 222 [Gene - HGNC]
  • SCARF1:scavenger receptor class F member 1 [Gene - OMIM - HGNC]
  • SHPK:sedoheptulokinase [Gene - OMIM - HGNC]
  • SRR:serine racemase [Gene - OMIM - HGNC]
  • SERPINF1:serpin family F member 1 [Gene - OMIM - HGNC]
  • SERPINF2:serpin family F member 2 [Gene - OMIM - HGNC]
  • SHBG:sex hormone binding globulin [Gene - OMIM - HGNC]
  • SHISA6:shisa family member 6 [Gene - OMIM - HGNC]
  • SGSM2:small G protein signaling modulator 2 [Gene - OMIM - HGNC]
  • SMTNL2:smoothelin like 2 [Gene - HGNC]
  • SLC13A5:solute carrier family 13 member 5 [Gene - OMIM - HGNC]
  • SLC16A11:solute carrier family 16 member 11 [Gene - OMIM - HGNC]
  • SLC16A13:solute carrier family 16 member 13 [Gene - HGNC]
  • SLC2A4:solute carrier family 2 member 4 [Gene - OMIM - HGNC]
  • SLC25A11:solute carrier family 25 member 11 [Gene - OMIM - HGNC]
  • SLC25A35:solute carrier family 25 member 35 [Gene - OMIM - HGNC]
  • SLC35G6:solute carrier family 35 member G6 [Gene - HGNC]
  • SLC43A2:solute carrier family 43 member 2 [Gene - OMIM - HGNC]
  • SLC52A1:solute carrier family 52 member 1 [Gene - OMIM - HGNC]
  • SPDYE4:speedy/RINGO cell cycle regulator family member E4 [Gene - OMIM - HGNC]
  • SPAG7:sperm associated antigen 7 [Gene - OMIM - HGNC]
  • SPEM1:spermatid maturation 1 [Gene - OMIM - HGNC]
  • SPATA22:spermatogenesis associated 22 [Gene - OMIM - HGNC]
  • SAT2:spermidine/spermine N1-acetyltransferase family member 2 [Gene - OMIM - HGNC]
  • STX8:syntaxin 8 [Gene - OMIM - HGNC]
  • SCO1:synthesis of cytochrome C oxidase 1 [Gene - OMIM - HGNC]
  • TRR-TCT2-1:tRNA-Arg (anticodon TCT) 2-1 [Gene - OMIM - HGNC]
  • TRQ-CTG1-5:tRNA-Gln (anticodon CTG) 1-5 [Gene - OMIM - HGNC]
  • TRG-GCC2-6:tRNA-Gly (anticodon GCC) 2-6 [Gene - OMIM - HGNC]
  • TRL-TAG1-1:tRNA-Leu (anticodon TAG) 1-1 [Gene - OMIM - HGNC]
  • TRK-TTT3-5:tRNA-Lys (anticodon TTT) 3-5 [Gene - OMIM - HGNC]
  • TEKT1:tektin 1 [Gene - OMIM - HGNC]
  • TXNDC17:thioredoxin domain containing 17 [Gene - OMIM - HGNC]
  • TRAPPC1:trafficking protein particle complex subunit 1 [Gene - OMIM - HGNC]
  • TRARG1:trafficking regulator of GLUT4 (SLC2A4) 1 [Gene - OMIM - HGNC]
  • TRPV1:transient receptor potential cation channel subfamily V member 1 [Gene - OMIM - HGNC]
  • TRPV3:transient receptor potential cation channel subfamily V member 3 [Gene - OMIM - HGNC]
  • TIMM22:translocase of inner mitochondrial membrane 22 [Gene - OMIM - HGNC]
  • TM4SF5:transmembrane 4 L six family member 5 [Gene - OMIM - HGNC]
  • TMEM102:transmembrane protein 102 [Gene - OMIM - HGNC]
  • TMEM107:transmembrane protein 107 [Gene - OMIM - HGNC]
  • TMEM220:transmembrane protein 220 [Gene - HGNC]
  • TMEM256:transmembrane protein 256 [Gene - OMIM - HGNC]
  • TMEM88:transmembrane protein 88 [Gene - OMIM - HGNC]
  • TMEM95:transmembrane protein 95 [Gene - OMIM - HGNC]
  • TP53:tumor protein p53 [Gene - OMIM - HGNC]
  • YWHAE:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon [Gene - OMIM - HGNC]
  • TNK1:tyrosine kinase non receptor 1 [Gene - OMIM - HGNC]
  • UBE2G1:ubiquitin conjugating enzyme E2 G1 [Gene - OMIM - HGNC]
  • USP43:ubiquitin specific peptidase 43 [Gene - HGNC]
  • USP6:ubiquitin specific peptidase 6 [Gene - OMIM - HGNC]
  • LOC100288728:uncharacterized LOC100288728 [Gene]
  • VAMP2:vesicle associated membrane protein 2 [Gene - OMIM - HGNC]
  • VMO1:vitelline membrane outer layer 1 homolog [Gene - HGNC]
  • ZMYND15:zinc finger MYND-type containing 15 [Gene - OMIM - HGNC]
  • ZZEF1:zinc finger ZZ-type and EF-hand domain containing 1 [Gene - OMIM - HGNC]
  • ZBTB4:zinc finger and BTB domain containing 4 [Gene - OMIM - HGNC]
  • ZNF232:zinc finger protein 232 [Gene - OMIM - HGNC]
  • ZNF594:zinc finger protein 594 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
17p13.3-12
Genomic location:
Chr17: 525 - 11186432 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: C3661900

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    Assertion and evidence details

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    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000811375Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    		Pathogenic
    (Oct 2, 2017)     		germlineclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000811375.1

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

    Last Updated: Sep 1, 2024