GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 AND Ductal breast carcinoma

Clinical significance:Uncertain significance (Last evaluated: Jul 20, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000207053.1

Allele description [Variation Report for GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3]

GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3

Genes:
  • PDPK1:3-phosphoinositide dependent protein kinase 1 [Gene - OMIM - HGNC]
  • ABAT:4-aminobutyrate aminotransferase [Gene - OMIM - HGNC]
  • ARL6IP1:ADP ribosylation factor like GTPase 6 interacting protein 1 [Gene - OMIM - HGNC]
  • ALG1:ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase [Gene - OMIM - HGNC]
  • ABCA3:ATP binding cassette subfamily A member 3 [Gene - OMIM - HGNC]
  • ABCC1:ATP binding cassette subfamily C member 1 [Gene - OMIM - HGNC]
  • ABCC6:ATP binding cassette subfamily C member 6 [Gene - OMIM - HGNC]
  • ATP6V0C:ATPase H+ transporting V0 subunit c [Gene - OMIM - HGNC]
  • ATP2A1:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 [Gene - OMIM - HGNC]
  • BCL7C:BAF chromatin remodeling complex subunit BCL7C [Gene - OMIM - HGNC]
  • BAIAP3:BAI1 associated protein 3 [Gene - OMIM - HGNC]
  • BICDL2:BICD family like cargo adaptor 2 [Gene - OMIM - HGNC]
  • BRICD5:BRICHOS domain containing 5 [Gene - HGNC]
  • CLEC16A:C-type lectin domain containing 16A [Gene - OMIM - HGNC]
  • CLEC19A:C-type lectin domain containing 19A [Gene - HGNC]
  • CASKIN1:CASK interacting protein 1 [Gene - OMIM - HGNC]
  • CD19:CD19 molecule [Gene - OMIM - HGNC]
  • CD2BP2:CD2 cytoplasmic tail binding protein 2 [Gene - OMIM - HGNC]
  • CDIPT:CDP-diacylglycerol--inositol 3-phosphatidyltransferase [Gene - OMIM - HGNC]
  • CLN3:CLN3 lysosomal/endosomal transmembrane protein, battenin [Gene - OMIM - HGNC]
  • CORO7-PAM16:CORO7-PAM16 readthrough [Gene - HGNC]
  • CREBBP:CREB binding protein [Gene - OMIM - HGNC]
  • DEXI:Dexi homolog [Gene - OMIM - HGNC]
  • DNAJA3:DnaJ heat shock protein family (Hsp40) member A3 [Gene - OMIM - HGNC]
  • E4F1:E4F transcription factor 1 [Gene - OMIM - HGNC]
  • ERCC4:ERCC excision repair 4, endonuclease catalytic subunit [Gene - OMIM - HGNC]
  • ERI2:ERI1 exoribonuclease family member 2 [Gene - HGNC]
  • FBXL19:F-box and leucine rich repeat protein 19 [Gene - OMIM - HGNC]
  • FOPNL:FGFR1OP N-terminal like [Gene - OMIM - HGNC]
  • FLYWCH2:FLYWCH family member 2 [Gene - HGNC]
  • FLYWCH1:FLYWCH-type zinc finger 1 [Gene - HGNC]
  • FUS:FUS RNA binding protein [Gene - OMIM - HGNC]
  • GPR139:G protein-coupled receptor 139 [Gene - OMIM - HGNC]
  • GPRC5B:G protein-coupled receptor class C group 5 member B [Gene - OMIM - HGNC]
  • GSPT1:G1 to S phase transition 1 [Gene - OMIM - HGNC]
  • GLIS2:GLIS family zinc finger 2 [Gene - OMIM - HGNC]
  • GSG1L:GSG1 like [Gene - OMIM - HGNC]
  • HIRIP3:HIRA interacting protein 3 [Gene - OMIM - HGNC]
  • INO80E:INO80 complex subunit E [Gene - HGNC]
  • IQCK:IQ motif containing K [Gene - HGNC]
  • ITPRIPL2:ITPRIP like 2 [Gene - HGNC]
  • JPT2:Jupiter microtubule associated homolog 2 [Gene - HGNC]
  • KIAA0556:KIAA0556 [Gene - OMIM - HGNC]
  • LYRM1:LYR motif containing 1 [Gene - OMIM - HGNC]
  • MEFV:MEFV innate immuity regulator, pyrin [Gene - OMIM - HGNC]
  • MPV17L:MPV17 mitochondrial inner membrane protein like [Gene - OMIM - HGNC]
  • MTRNR2L4:MT-RNR2 like 4 [Gene - HGNC]
  • MLST8:MTOR associated protein, LST8 homolog [Gene - OMIM - HGNC]
  • MAZ:MYC associated zinc finger protein [Gene - OMIM - HGNC]
  • GNPTG:N-acetylglucosamine-1-phosphate transferase subunit gamma [Gene - OMIM - HGNC]
  • NAGPA:N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase [Gene - OMIM - HGNC]
  • NAA60:N-alpha-acetyltransferase 60, NatF catalytic subunit [Gene - OMIM - HGNC]
  • NTAN1:N-terminal asparagine amidase [Gene - OMIM - HGNC]
  • NDUFAB1:NADH:ubiquinone oxidoreductase subunit AB1 [Gene - OMIM - HGNC]
  • NDUFB10:NADH:ubiquinone oxidoreductase subunit B10 [Gene - OMIM - HGNC]
  • NOXO1:NADPH oxidase organizer 1 [Gene - OMIM - HGNC]
  • NLRC3:NLR family CARD domain containing 3 [Gene - OMIM - HGNC]
  • NME3:NME/NM23 nucleoside diphosphate kinase 3 [Gene - OMIM - HGNC]
  • NOMO1:NODAL modulator 1 [Gene - OMIM - HGNC]
  • NOMO2:NODAL modulator 2 [Gene - OMIM - HGNC]
  • NOMO3:NODAL modulator 3 [Gene - OMIM - HGNC]
  • NSMCE1:NSE1 homolog, SMC5-SMC6 complex component [Gene - OMIM - HGNC]
  • NMRAL1:NmrA like redox sensor 1 [Gene - HGNC]
  • ORAI3:ORAI calcium release-activated calcium modulator 3 [Gene - OMIM - HGNC]
  • PAGR1:PAXIP1 associated glutamate rich protein 1 [Gene - OMIM - HGNC]
  • PDZD9:PDZ domain containing 9 [Gene - HGNC]
  • PYCARD:PYD and CARD domain containing [Gene - OMIM - HGNC]
  • RAB26:RAB26, member RAS oncogene family [Gene - OMIM - HGNC]
  • RBBP6:RB binding protein 6, ubiquitin ligase [Gene - OMIM - HGNC]
  • RBFOX1:RNA binding fox-1 homolog 1 [Gene - OMIM - HGNC]
  • RNPS1:RNA binding protein with serine rich domain 1 [Gene - OMIM - HGNC]
  • POLR3E:RNA polymerase III subunit E [Gene - OMIM - HGNC]
  • RRN3:RRN3 homolog, RNA polymerase I transcription factor [Gene - OMIM - HGNC]
  • RMI2:RecQ mediated genome instability 2 [Gene - OMIM - HGNC]
  • ARHGAP17:Rho GTPase activating protein 17 [Gene - OMIM - HGNC]
  • SGF29:SAGA complex associated factor 29 [Gene - OMIM - HGNC]
  • SEC14L5:SEC14 like lipid binding 5 [Gene - HGNC]
  • SETD1A:SET domain containing 1A, histone lysine methyltransferase [Gene - OMIM - HGNC]
  • SH2B1:SH2B adaptor protein 1 [Gene - OMIM - HGNC]
  • SBK1:SH3 domain binding kinase 1 [Gene - HGNC]
  • SLC9A3R2:SLC9A3 regulator 2 [Gene - OMIM - HGNC]
  • SLX1A:SLX1 homolog A, structure-specific endonuclease subunit [Gene - OMIM - HGNC]
  • SLX1B:SLX1 homolog B, structure-specific endonuclease subunit [Gene - OMIM - HGNC]
  • SLX4:SLX4 structure-specific endonuclease subunit [Gene - OMIM - HGNC]
  • SMG1:SMG1 nonsense mediated mRNA decay associated PI3K related kinase [Gene - OMIM - HGNC]
  • SRCAP:Snf2 related CREBBP activator protein [Gene - OMIM - HGNC]
  • TBX6:T-box transcription factor 6 [Gene - OMIM - HGNC]
  • TAOK2:TAO kinase 2 [Gene - OMIM - HGNC]
  • TBC1D10B:TBC1 domain family member 10B [Gene - OMIM - HGNC]
  • TBC1D24:TBC1 domain family member 24 [Gene - OMIM - HGNC]
  • THOC6:THO complex 6 [Gene - OMIM - HGNC]
  • THUMPD1:THUMP domain containing 1 [Gene - OMIM - HGNC]
  • TLCD3B:TLC domain containing 3B [Gene - OMIM - HGNC]
  • TRAF7:TNF receptor associated factor 7 [Gene - OMIM - HGNC]
  • TRAP1:TNF receptor associated protein 1 [Gene - OMIM - HGNC]
  • TNFRSF12A:TNF receptor superfamily member 12A [Gene - OMIM - HGNC]
  • TNFRSF17:TNF receptor superfamily member 17 [Gene - OMIM - HGNC]
  • TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]
  • TSR3:TSR3 ribosome maturation factor [Gene - OMIM - HGNC]
  • TUFM:Tu translation elongation factor, mitochondrial [Gene - OMIM - HGNC]
  • UBALD1:UBA like domain containing 1 [Gene - HGNC]
  • VPS35L:VPS35 endosomal protein sorting factor like [Gene - HGNC]
  • ATF7IP2:activating transcription factor 7 interacting protein 2 [Gene - OMIM - HGNC]
  • ACSM1:acyl-CoA synthetase medium chain family member 1 [Gene - OMIM - HGNC]
  • ACSM2A:acyl-CoA synthetase medium chain family member 2A [Gene - OMIM - HGNC]
  • ACSM2B:acyl-CoA synthetase medium chain family member 2B [Gene - OMIM - HGNC]
  • ACSM3:acyl-CoA synthetase medium chain family member 3 [Gene - OMIM - HGNC]
  • ACSM5:acyl-CoA synthetase medium chain family member 5 [Gene - OMIM - HGNC]
  • ADCY9:adenylate cyclase 9 [Gene - OMIM - HGNC]
  • ALDOA:aldolase, fructose-bisphosphate A [Gene - OMIM - HGNC]
  • AHSP:alpha hemoglobin stabilizing protein [Gene - OMIM - HGNC]
  • AMDHD2:amidohydrolase domain containing 2 [Gene - HGNC]
  • ANKS3:ankyrin repeat and sterile alpha motif domain containing 3 [Gene - OMIM - HGNC]
  • ANKS4B:ankyrin repeat and sterile alpha motif domain containing 4B [Gene - OMIM - HGNC]
  • APOBR:apolipoprotein B receptor [Gene - OMIM - HGNC]
  • AQP8:aquaporin 8 [Gene - OMIM - HGNC]
  • ARMC5:armadillo repeat containing 5 [Gene - OMIM - HGNC]
  • ASPHD1:aspartate beta-hydroxylase domain containing 1 [Gene - HGNC]
  • ATXN2L:ataxin 2 like [Gene - OMIM - HGNC]
  • BMERB1:bMERB domain containing 1 [Gene - HGNC]
  • BFAR:bifunctional apoptosis regulator [Gene - HGNC]
  • BOLA2:bolA family member 2 [Gene - OMIM - HGNC]
  • BOLA2B:bolA family member 2B [Gene - HGNC]
  • BCKDK:branched chain keto acid dehydrogenase kinase [Gene - OMIM - HGNC]
  • BCAR4:breast cancer anti-estrogen resistance 4 [Gene - OMIM - HGNC]
  • CHP2:calcineurin like EF-hand protein 2 [Gene - HGNC]
  • CPPED1:calcineurin like phosphoesterase domain containing 1 [Gene - OMIM - HGNC]
  • CARHSP1:calcium regulated heat stable protein 1 [Gene - OMIM - HGNC]
  • CACNG3:calcium voltage-gated channel auxiliary subunit gamma 3 [Gene - OMIM - HGNC]
  • CTF1:cardiotrophin 1 [Gene - OMIM - HGNC]
  • CDIP1:cell death inducing p53 target 1 [Gene - OMIM - HGNC]
  • CEMP1:cementum protein 1 [Gene - OMIM - HGNC]
  • CCP110:centriolar coiled-coil protein 110 [Gene - OMIM - HGNC]
  • CDR2:cerebellar degeneration related protein 2 [Gene - OMIM - HGNC]
  • CLCN7:chloride voltage-gated channel 7 [Gene - OMIM - HGNC]
  • C16orf54:chromosome 16 open reading frame 54 [Gene - HGNC]
  • C16orf58:chromosome 16 open reading frame 58 [Gene - HGNC]
  • C16orf71:chromosome 16 open reading frame 71 [Gene - HGNC]
  • C16orf72:chromosome 16 open reading frame 72 [Gene - HGNC]
  • C16orf82:chromosome 16 open reading frame 82 [Gene - HGNC]
  • C16orf89:chromosome 16 open reading frame 89 [Gene - HGNC]
  • C16orf90:chromosome 16 open reading frame 90 [Gene - HGNC]
  • C16orf91:chromosome 16 open reading frame 91 [Gene - HGNC]
  • C16orf92:chromosome 16 open reading frame 92 [Gene - HGNC]
  • C16orf96:chromosome 16 open reading frame 96 [Gene - HGNC]
  • CIITA:class II major histocompatibility complex transactivator [Gene - OMIM - HGNC]
  • CLDN6:claudin 6 [Gene - OMIM - HGNC]
  • CLDN9:claudin 9 [Gene - OMIM - HGNC]
  • CLUAP1:clusterin associated protein 1 [Gene - OMIM - HGNC]
  • COQ7:coenzyme Q7, hydroxylase [Gene - OMIM - HGNC]
  • CCDC154:coiled-coil domain containing 154 [Gene - HGNC]
  • CCDC189:coiled-coil domain containing 189 [Gene - OMIM - HGNC]
  • COG7:component of oligomeric golgi complex 7 [Gene - OMIM - HGNC]
  • CORO1A:coronin 1A [Gene - OMIM - HGNC]
  • CORO7:coronin 7 [Gene - OMIM - HGNC]
  • CRAMP1:cramped chromatin regulator homolog 1 [Gene - HGNC]
  • CRYM:crystallin mu [Gene - OMIM - HGNC]
  • CCNF:cyclin F [Gene - OMIM - HGNC]
  • COX6A2:cytochrome c oxidase subunit 6A2 [Gene - OMIM - HGNC]
  • DCTPP1:dCTP pyrophosphatase 1 [Gene - OMIM - HGNC]
  • DCUN1D3:defective in cullin neddylation 1 domain containing 3 [Gene - OMIM - HGNC]
  • DNASE1L2:deoxyribonuclease 1 like 2 [Gene - OMIM - HGNC]
  • DNASE1:deoxyribonuclease 1 [Gene - OMIM - HGNC]
  • DOC2A:double C2 domain alpha [Gene - OMIM - HGNC]
  • DCTN5:dynactin subunit 5 [Gene - OMIM - HGNC]
  • DNAH3:dynein axonemal heavy chain 3 [Gene - OMIM - HGNC]
  • ELOB:elongin B [Gene - OMIM - HGNC]
  • ERN2:endoplasmic reticulum to nucleus signaling 2 [Gene - OMIM - HGNC]
  • ECI1:enoyl-CoA delta isomerase 1 [Gene - OMIM - HGNC]
  • EMP2:epithelial membrane protein 2 [Gene - OMIM - HGNC]
  • EME2:essential meiotic structure-specific endonuclease subunit 2 [Gene - OMIM - HGNC]
  • EEF2K:eukaryotic elongation factor 2 kinase [Gene - OMIM - HGNC]
  • EEF2KMT:eukaryotic elongation factor 2 lysine methyltransferase [Gene - OMIM - HGNC]
  • EIF3CL:eukaryotic translation initiation factor 3 subunit C like [Gene - HGNC]
  • EIF3C:eukaryotic translation initiation factor 3 subunit C [Gene - OMIM - HGNC]
  • XPO6:exportin 6 [Gene - OMIM - HGNC]
  • FBRS:fibrosin [Gene - OMIM - HGNC]
  • FAHD1:fumarylacetoacetate hydrolase domain containing 1 [Gene - OMIM - HGNC]
  • GTF3C1:general transcription factor IIIC subunit 1 [Gene - OMIM - HGNC]
  • GRIN2A:glutamate ionotropic receptor NMDA type subunit 2A [Gene - OMIM - HGNC]
  • EARS2:glutamyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • GDE1:glycerophosphodiester phosphodiesterase 1 [Gene - OMIM - HGNC]
  • GDPD3:glycerophosphodiester phosphodiesterase domain containing 3 [Gene - OMIM - HGNC]
  • GP2:glycoprotein 2 [Gene - OMIM - HGNC]
  • GLYR1:glyoxylate reductase 1 homolog [Gene - OMIM - HGNC]
  • GGA2:golgi associated, gamma adaptin ear containing, ARF binding protein 2 [Gene - OMIM - HGNC]
  • GFER:growth factor, augmenter of liver regeneration [Gene - OMIM - HGNC]
  • HMOX2:heme oxygenase 2 [Gene - OMIM - HGNC]
  • HS3ST2:heparan sulfate-glucosamine 3-sulfotransferase 2 [Gene - OMIM - HGNC]
  • HS3ST4:heparan sulfate-glucosamine 3-sulfotransferase 4 [Gene - OMIM - HGNC]
  • HS3ST6:heparan sulfate-glucosamine 3-sulfotransferase 6 [Gene - HGNC]
  • HCFC1R1:host cell factor C1 regulator 1 [Gene - HGNC]
  • HSD3B7:hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 [Gene - OMIM - HGNC]
  • HAGH:hydroxyacylglutathione hydrolase [Gene - OMIM - HGNC]
  • IGSF6:immunoglobulin superfamily member 6 [Gene - OMIM - HGNC]
  • IGFALS:insulin like growth factor binding protein acid labile subunit [Gene - OMIM - HGNC]
  • ITGAD:integrin subunit alpha D [Gene - OMIM - HGNC]
  • ITGAL:integrin subunit alpha L [Gene - OMIM - HGNC]
  • ITGAM:integrin subunit alpha M [Gene - OMIM - HGNC]
  • ITGAX:integrin subunit alpha X [Gene - OMIM - HGNC]
  • IL21R:interleukin 21 receptor [Gene - OMIM - HGNC]
  • IL27:interleukin 27 [Gene - OMIM - HGNC]
  • IL32:interleukin 32 [Gene - OMIM - HGNC]
  • IL4R:interleukin 4 receptor [Gene - OMIM - HGNC]
  • IFT140:intraflagellar transport 140 [Gene - OMIM - HGNC]
  • KIF22:kinesin family member 22 [Gene - OMIM - HGNC]
  • KREMEN2:kringle containing transmembrane protein 2 [Gene - OMIM - HGNC]
  • LCMT1:leucine carboxyl methyltransferase 1 [Gene - OMIM - HGNC]
  • LAT:linker for activation of T cells [Gene - OMIM - HGNC]
  • LITAF:lipopolysaccharide induced TNF factor [Gene - OMIM - HGNC]
  • KAT8:lysine acetyltransferase 8 [Gene - OMIM - HGNC]
  • KDM8:lysine demethylase 8 [Gene - OMIM - HGNC]
  • KNOP1:lysine rich nucleolar protein 1 [Gene - HGNC]
  • MGRN1:mahogunin ring finger 1 [Gene - OMIM - HGNC]
  • MVP:major vault protein [Gene - OMIM - HGNC]
  • MMP25:matrix metallopeptidase 25 [Gene - OMIM - HGNC]
  • MARF1:meiosis regulator and mRNA stability factor 1 [Gene - OMIM - HGNC]
  • MEIOB:meiosis specific with OB-fold [Gene - OMIM - HGNC]
  • MSRB1:methionine sulfoxide reductase B1 [Gene - OMIM - HGNC]
  • METTL22:methyltransferase like 22 [Gene - OMIM - HGNC]
  • METTL9:methyltransferase like 9 [Gene - OMIM - HGNC]
  • MIR1225:microRNA 1225 [Gene - OMIM - HGNC]
  • MIR193B:microRNA 193b [Gene - OMIM - HGNC]
  • MIR365A:microRNA 365a [Gene - OMIM - HGNC]
  • MRPS34:mitochondrial ribosomal protein S34 [Gene - OMIM - HGNC]
  • MAPK3:mitogen-activated protein kinase 3 [Gene - OMIM - HGNC]
  • MAPK8IP3:mitogen-activated protein kinase 8 interacting protein 3 [Gene - OMIM - HGNC]
  • MOSMO:modulator of smoothened [Gene - HGNC]
  • MRTFB:myocardin related transcription factor B [Gene - OMIM - HGNC]
  • MYH11:myosin heavy chain 11 [Gene - OMIM - HGNC]
  • MYLPF:myosin light chain, phosphorylatable, fast skeletal muscle [Gene - OMIM - HGNC]
  • NTN3:netrin 3 [Gene - OMIM - HGNC]
  • NPW:neuropeptide W [Gene - OMIM - HGNC]
  • NTHL1:nth like DNA glycosylase 1 [Gene - OMIM - HGNC]
  • NFATC2IP:nuclear factor of activated T cells 2 interacting protein [Gene - OMIM - HGNC]
  • NPIPA1:nuclear pore complex interacting protein family member A1 [Gene - OMIM - HGNC]
  • NPIPA2:nuclear pore complex interacting protein family member A2 [Gene - HGNC]
  • NPIPA3:nuclear pore complex interacting protein family member A3 [Gene - HGNC]
  • NPIPA5:nuclear pore complex interacting protein family member A5 [Gene - HGNC]
  • NPIPB3:nuclear pore complex interacting protein family member B3 [Gene - HGNC]
  • NPIPB4:nuclear pore complex interacting protein family member B4 [Gene - HGNC]
  • NPIPB5:nuclear pore complex interacting protein family member B5 [Gene - HGNC]
  • NPIPB6:nuclear pore complex interacting protein family member B6 [Gene - HGNC]
  • NUPR1:nuclear protein 1, transcriptional regulator [Gene - OMIM - HGNC]
  • NUBP1:nucleotide binding protein 1 [Gene - OMIM - HGNC]
  • NUBP2:nucleotide binding protein 2 [Gene - OMIM - HGNC]
  • NDE1:nudE neurodevelopment protein 1 [Gene - OMIM - HGNC]
  • NUDT16L1:nudix hydrolase 16 like 1 [Gene - OMIM - HGNC]
  • OR1F1:olfactory receptor family 1 subfamily F member 1 (gene/pseudogene) [Gene - OMIM - HGNC]
  • OR2C1:olfactory receptor family 2 subfamily C member 1 [Gene - HGNC]
  • OTOA:otoancorin [Gene - OMIM - HGNC]
  • PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
  • PTX4:pentraxin 4 [Gene - OMIM - HGNC]
  • PPL:periplakin [Gene - OMIM - HGNC]
  • PGP:phosphoglycolate phosphatase [Gene - OMIM - HGNC]
  • PLA2G10:phospholipase A2 group X [Gene - OMIM - HGNC]
  • PMM2:phosphomannomutase 2 [Gene - OMIM - HGNC]
  • PHKG2:phosphorylase kinase catalytic subunit gamma 2 [Gene - OMIM - HGNC]
  • PLK1:polo like kinase 1 [Gene - OMIM - HGNC]
  • PARN:poly(A)-specific ribonuclease [Gene - OMIM - HGNC]
  • PKD1:polycystin 1, transient receptor potential channel interacting [Gene - OMIM - HGNC]
  • KCTD13:potassium channel tetramerization domain containing 13 [Gene - OMIM - HGNC]
  • KCTD5:potassium channel tetramerization domain containing 5 [Gene - OMIM - HGNC]
  • PAM16:presequence translocase associated motor 16 [Gene - OMIM - HGNC]
  • PAQR4:progestin and adipoQ receptor family member 4 [Gene - OMIM - HGNC]
  • PRR14:proline rich 14 [Gene - OMIM - HGNC]
  • PRRT2:proline rich transmembrane protein 2 [Gene - OMIM - HGNC]
  • PRM1:protamine 1 [Gene - OMIM - HGNC]
  • PRM2:protamine 2 [Gene - OMIM - HGNC]
  • PRM3:protamine 3 [Gene - HGNC]
  • PDILT:protein disulfide isomerase like, testis expressed [Gene - OMIM - HGNC]
  • PRKCB:protein kinase C beta [Gene - OMIM - HGNC]
  • PKMYT1:protein kinase, membrane associated tyrosine/threonine 1 [Gene - OMIM - HGNC]
  • PPP4C:protein phosphatase 4 catalytic subunit [Gene - OMIM - HGNC]
  • PDXDC1:pyridoxal dependent decarboxylase domain containing 1 [Gene - OMIM - HGNC]
  • PYDC1:pyrin domain containing 1 [Gene - OMIM - HGNC]
  • QPRT:quinolinate phosphoribosyltransferase [Gene - OMIM - HGNC]
  • RABEP2:rabaptin, RAB GTPase binding effector protein 2 [Gene - OMIM - HGNC]
  • RSL1D1:ribosomal L1 domain containing 1 [Gene - OMIM - HGNC]
  • RPL3L:ribosomal protein L3 like [Gene - OMIM - HGNC]
  • RPS15A:ribosomal protein S15a [Gene - OMIM - HGNC]
  • RPS2:ribosomal protein S2 [Gene - OMIM - HGNC]
  • RNF151:ring finger protein 151 [Gene - HGNC]
  • RNF40:ring finger protein 40 [Gene - OMIM - HGNC]
  • ROGDI:rogdi atypical leucine zipper [Gene - OMIM - HGNC]
  • SRL:sarcalumenin [Gene - OMIM - HGNC]
  • SEZ6L2:seizure related 6 homolog like 2 [Gene - OMIM - HGNC]
  • SEPHS2:selenophosphate synthetase 2 [Gene - OMIM - HGNC]
  • SEPTIN12:septin 12 [Gene - OMIM - HGNC]
  • SEPTIN1:septin 1 [Gene - OMIM - HGNC]
  • PRSS21:serine protease 21 [Gene - OMIM - HGNC]
  • PRSS22:serine protease 22 [Gene - OMIM - HGNC]
  • PRSS27:serine protease 27 [Gene - OMIM - HGNC]
  • PRSS33:serine protease 33 [Gene - OMIM - HGNC]
  • PRSS36:serine protease 36 [Gene - OMIM - HGNC]
  • PRSS41:serine protease 41 [Gene - HGNC]
  • PRSS53:serine protease 53 [Gene - OMIM - HGNC]
  • PRSS8:serine protease 8 [Gene - OMIM - HGNC]
  • SRRM2:serine/arginine repetitive matrix 2 [Gene - OMIM - HGNC]
  • SHISA9:shisa family member 9 [Gene - OMIM - HGNC]
  • SDR42E2:short chain dehydrogenase/reductase family 42E, member 2 [Gene - HGNC]
  • SPN:sialophorin [Gene - OMIM - HGNC]
  • SMIM22:small integral membrane protein 22 [Gene - HGNC]
  • SNHG9:small nucleolar RNA host gene 9 [Gene - HGNC]
  • SCNN1B:sodium channel epithelial 1 subunit beta [Gene - OMIM - HGNC]
  • SCNN1G:sodium channel epithelial 1 subunit gamma [Gene - OMIM - HGNC]
  • SLC5A11:solute carrier family 5 member 11 [Gene - OMIM - HGNC]
  • SLC5A2:solute carrier family 5 member 2 [Gene - OMIM - HGNC]
  • SNX29:sorting nexin 29 [Gene - HGNC]
  • SPNS1:sphingolipid transporter 1 (putative) [Gene - OMIM - HGNC]
  • SPSB3:splA/ryanodine receptor domain and SOCS box containing 3 [Gene - OMIM - HGNC]
  • SNN:stannin [Gene - OMIM - HGNC]
  • SULT1A1:sulfotransferase family 1A member 1 [Gene - OMIM - HGNC]
  • SULT1A2:sulfotransferase family 1A member 2 [Gene - OMIM - HGNC]
  • SULT1A3:sulfotransferase family 1A member 3 [Gene - OMIM - HGNC]
  • SULT1A4:sulfotransferase family 1A member 4 [Gene - OMIM - HGNC]
  • SOCS1:suppressor of cytokine signaling 1 [Gene - OMIM - HGNC]
  • SYNGR3:synaptogyrin 3 [Gene - OMIM - HGNC]
  • SYT17:synaptotagmin 17 [Gene - HGNC]
  • STX1B:syntaxin 1B [Gene - OMIM - HGNC]
  • STX4:syntaxin 4 [Gene - OMIM - HGNC]
  • TEKT5:tektin 5 [Gene - OMIM - HGNC]
  • TELO2:telomere maintenance 2 [Gene - OMIM - HGNC]
  • TXNDC11:thioredoxin domain containing 11 [Gene - OMIM - HGNC]
  • TIGD7:tigger transposable element derived 7 [Gene - OMIM - HGNC]
  • TVP23A:trans-golgi network vesicle protein 23 homolog A [Gene - HGNC]
  • TFAP4:transcription factor AP-4 [Gene - OMIM - HGNC]
  • TBL3:transducin beta like 3 [Gene - OMIM - HGNC]
  • TGFB1I1:transforming growth factor beta 1 induced transcript 1 [Gene - OMIM - HGNC]
  • TNP2:transition protein 2 [Gene - OMIM - HGNC]
  • TMC5:transmembrane channel like 5 [Gene - OMIM - HGNC]
  • TMC7:transmembrane channel like 7 [Gene - OMIM - HGNC]
  • TMEM114:transmembrane protein 114 [Gene - OMIM - HGNC]
  • TMEM159:transmembrane protein 159 [Gene - OMIM - HGNC]
  • TMEM186:transmembrane protein 186 [Gene - HGNC]
  • TMEM204:transmembrane protein 204 [Gene - OMIM - HGNC]
  • TMEM219:transmembrane protein 219 [Gene - HGNC]
  • TNRC6A:trinucleotide repeat containing adaptor 6A [Gene - OMIM - HGNC]
  • TRIM72:tripartite motif containing 72 [Gene - OMIM - HGNC]
  • TPSAB1:tryptase alpha/beta 1 [Gene - OMIM - HGNC]
  • TPSB2:tryptase beta 2 (gene/pseudogene) [Gene - OMIM - HGNC]
  • TPSD1:tryptase delta 1 [Gene - OMIM - HGNC]
  • TEDC2:tubulin epsilon and delta complex 2 [Gene - HGNC]
  • UBN1:ubinuclein 1 [Gene - OMIM - HGNC]
  • UQCRC2:ubiquinol-cytochrome c reductase core protein 2 [Gene - OMIM - HGNC]
  • UBE2I:ubiquitin conjugating enzyme E2 I [Gene - OMIM - HGNC]
  • UBFD1:ubiquitin family domain containing 1 [Gene - HGNC]
  • USP31:ubiquitin specific peptidase 31 [Gene - HGNC]
  • USP7:ubiquitin specific peptidase 7 [Gene - OMIM - HGNC]
  • UNKL:unk like zinc finger [Gene - OMIM - HGNC]
  • UMOD:uromodulin [Gene - OMIM - HGNC]
  • VASN:vasorin [Gene - OMIM - HGNC]
  • VKORC1:vitamin K epoxide reductase complex subunit 1 [Gene - OMIM - HGNC]
  • VWA3A:von Willebrand factor A domain containing 3A [Gene - HGNC]
  • XYLT1:xylosyltransferase 1 [Gene - OMIM - HGNC]
  • YPEL3:yippee like 3 [Gene - OMIM - HGNC]
  • ZC3H7A:zinc finger CCCH-type containing 7A [Gene - HGNC]
  • ZSCAN10:zinc finger and SCAN domain containing 10 [Gene - OMIM - HGNC]
  • ZSCAN32:zinc finger and SCAN domain containing 32 [Gene - HGNC]
  • ZNF174:zinc finger protein 174 [Gene - OMIM - HGNC]
  • ZNF200:zinc finger protein 200 [Gene - OMIM - HGNC]
  • ZNF205:zinc finger protein 205 [Gene - OMIM - HGNC]
  • ZNF213:zinc finger protein 213 [Gene - OMIM - HGNC]
  • ZNF263:zinc finger protein 263 [Gene - OMIM - HGNC]
  • ZNF267:zinc finger protein 267 [Gene - OMIM - HGNC]
  • ZNF48:zinc finger protein 48 [Gene - HGNC]
  • ZNF500:zinc finger protein 500 [Gene - HGNC]
  • ZNF597:zinc finger protein 597 [Gene - OMIM - HGNC]
  • ZNF598:zinc finger protein 598 [Gene - OMIM - HGNC]
  • ZNF629:zinc finger protein 629 [Gene - HGNC]
  • ZNF646:zinc finger protein 646 [Gene - HGNC]
  • ZNF668:zinc finger protein 668 [Gene - OMIM - HGNC]
  • ZNF688:zinc finger protein 688 [Gene - HGNC]
  • ZNF689:zinc finger protein 689 [Gene - OMIM - HGNC]
  • ZNF720:zinc finger protein 720 [Gene - HGNC]
  • ZNF747:zinc finger protein 747 [Gene - HGNC]
  • ZNF75A:zinc finger protein 75a [Gene - OMIM - HGNC]
  • ZNF764:zinc finger protein 764 [Gene - HGNC]
  • ZNF768:zinc finger protein 768 [Gene - OMIM - HGNC]
  • ZNF771:zinc finger protein 771 [Gene - HGNC]
  • ZNF785:zinc finger protein 785 [Gene - HGNC]
  • ZNF843:zinc finger protein 843 [Gene - HGNC]
  • ZKSCAN2:zinc finger with KRAB and SCAN domains 2 [Gene - HGNC]
  • ZP2:zona pellucida glycoprotein 2 [Gene - OMIM - HGNC]
  • ZG16:zymogen granule protein 16 [Gene - OMIM - HGNC]
  • ZG16B:zymogen granule protein 16B [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
16p13.3-11.2
Genomic location:
Chr16: 1279324 - 31926800 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3
HGVS:

    Condition(s)

    Name:
    Ductal breast carcinoma
    Synonyms:
    Breast cancer, invasive ductal
    Identifiers:
    MedGen: C1527349

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000258741Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc.no assertion criteria providedUncertain significance
    (Jul 20, 2015)
    somaticresearch

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedsomaticyesnot providednot providednot providednot providednoresearch

    Details of each submission

    From Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc., SCV000258741.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednoresearchnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1somaticyesnot providedleft breastnot providednot providednot providednot providednot provided

    Last Updated: Nov 28, 2019

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