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Single allele AND Breast ductal adenocarcinoma

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 20, 2015
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:
RCV000207058.1

Allele description

Genes:
  • HMGCL:3-hydroxy-3-methylglutaryl-CoA lyase [Gene - OMIM - HGNC]
  • HTR1D:5-hydroxytryptamine receptor 1D [Gene - OMIM - HGNC]
  • HTR6:5-hydroxytryptamine receptor 6 [Gene - OMIM - HGNC]
  • ATP13A2:ATPase cation transporting 13A2 [Gene - OMIM - HGNC]
  • ATAD3A:ATPase family AAA domain containing 3A [Gene - OMIM - HGNC]
  • ATAD3B:ATPase family AAA domain containing 3B [Gene - OMIM - HGNC]
  • ATAD3C:ATPase family AAA domain containing 3C [Gene - OMIM - HGNC]
  • ASAP3:ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 [Gene - OMIM - HGNC]
  • ACAP3:ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 [Gene - HGNC]
  • C1QTNF12:C1q and TNF related 12 [Gene - OMIM - HGNC]
  • CENPS-CORT:CENPS-CORT readthrough [Gene - HGNC]
  • DDI2:DNA damage inducible 1 homolog 2 [Gene - HGNC]
  • DFFA:DNA fragmentation factor subunit alpha [Gene - OMIM - HGNC]
  • DFFB:DNA fragmentation factor subunit beta [Gene - OMIM - HGNC]
  • DNAJC11:DnaJ heat shock protein family (Hsp40) member C11 [Gene - OMIM - HGNC]
  • DNAJC16:DnaJ heat shock protein family (Hsp40) member C16 [Gene - OMIM - HGNC]
  • E2F2:E2F transcription factor 2 [Gene - OMIM - HGNC]
  • EFHD2:EF-hand domain family member D2 [Gene - OMIM - HGNC]
  • ENO1-AS1:ENO1 antisense RNA 1 [Gene - HGNC]
  • EPHA2:EPH receptor A2 [Gene - OMIM - HGNC]
  • EPHA8:EPH receptor A8 [Gene - OMIM - HGNC]
  • EPHB2:EPH receptor B2 [Gene - OMIM - HGNC]
  • EMC1:ER membrane protein complex subunit 1 [Gene - OMIM - HGNC]
  • ERRFI1:ERBB receptor feedback inhibitor 1 [Gene - OMIM - HGNC]
  • FBXO2:F-box protein 2 [Gene - OMIM - HGNC]
  • FBXO42:F-box protein 42 [Gene - OMIM - HGNC]
  • FBXO44:F-box protein 44 [Gene - OMIM - HGNC]
  • FBXO6:F-box protein 6 [Gene - OMIM - HGNC]
  • FAAP20:FA core complex associated protein 20 [Gene - OMIM - HGNC]
  • GNB1:G protein subunit beta 1 [Gene - OMIM - HGNC]
  • GPR153:G protein-coupled receptor 153 [Gene - OMIM - HGNC]
  • GPR157:G protein-coupled receptor 157 [Gene - HGNC]
  • ISG15:ISG15 ubiquitin like modifier [Gene - OMIM - HGNC]
  • KIAA2013:KIAA2013 [Gene - HGNC]
  • MASP2:MBL associated serine protease 2 [Gene - OMIM - HGNC]
  • MIB2:MIB E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
  • MICOS10-NBL1:MICOS10-NBL1 readthrough [Gene - HGNC]
  • MORN1:MORN repeat containing 1 [Gene - HGNC]
  • MRTO4:MRT4 homolog, ribosome maturation factor [Gene - OMIM - HGNC]
  • NADK:NAD kinase [Gene - OMIM - HGNC]
  • NBL1:NBL1, DAN family BMP antagonist [Gene - OMIM - HGNC]
  • NBPF1:NBPF member 1 [Gene - OMIM - HGNC]
  • NBPF3:NBPF member 3 [Gene - OMIM - HGNC]
  • NECAP2:NECAP endocytosis associated 2 [Gene - OMIM - HGNC]
  • OTUD3:OTU deubiquitinase 3 [Gene - OMIM - HGNC]
  • PHF13:PHD finger protein 13 [Gene - OMIM - HGNC]
  • PITHD1:PITH domain containing 1 [Gene - OMIM - HGNC]
  • PRDM16:PR/SET domain 16 [Gene - OMIM - HGNC]
  • PRDM2:PR/SET domain 2 [Gene - OMIM - HGNC]
  • PRAMEF10:PRAME family member 10 [Gene - HGNC]
  • PRAMEF11:PRAME family member 11 [Gene - HGNC]
  • PRAMEF12:PRAME family member 12 [Gene - HGNC]
  • PRAMEF13:PRAME family member 13 [Gene - HGNC]
  • PRAMEF15:PRAME family member 15 [Gene - HGNC]
  • PRAMEF17:PRAME family member 17 [Gene - HGNC]
  • PRAMEF18:PRAME family member 18 [Gene - HGNC]
  • PRAMEF19:PRAME family member 19 [Gene - HGNC]
  • PRAMEF1:PRAME family member 1 [Gene - HGNC]
  • PRAMEF20:PRAME family member 20 [Gene - HGNC]
  • PRAMEF22:PRAME family member 22 [Gene - HGNC]
  • PRAMEF2:PRAME family member 2 [Gene - HGNC]
  • PRAMEF4:PRAME family member 4 [Gene - HGNC]
  • PRAMEF5:PRAME family member 5 [Gene - HGNC]
  • PRAMEF6:PRAME family member 6 [Gene - HGNC]
  • PRAMEF7:PRAME family member 7 [Gene - HGNC]
  • PRAMEF8:PRAME family member 8 [Gene - HGNC]
  • PRAMEF9:PRAME family member 9 [Gene - HGNC]
  • PINK1:PTEN induced kinase 1 [Gene - OMIM - HGNC]
  • PARK7:Parkinsonism associated deglycase [Gene - OMIM - HGNC]
  • RAP1GAP:RAP1 GTPase activating protein [Gene - OMIM - HGNC]
  • RNU1-4:RNA, U1 small nuclear 4 [Gene - OMIM - HGNC]
  • ARHGEF10L:Rho guanine nucleotide exchange factor 10 like [Gene - OMIM - HGNC]
  • ARHGEF16:Rho guanine nucleotide exchange factor 16 [Gene - OMIM - HGNC]
  • ARHGEF19:Rho guanine nucleotide exchange factor 19 [Gene - OMIM - HGNC]
  • SH2D5:SH2 domain containing 5 [Gene - HGNC]
  • SKI:SKI proto-oncogene [Gene - OMIM - HGNC]
  • SSU72:SSU72 homolog, RNA polymerase II CTD phosphatase [Gene - OMIM - HGNC]
  • SZRD1:SUZ RNA binding domain containing 1 [Gene - OMIM - HGNC]
  • TARDBP:TAR DNA binding protein [Gene - OMIM - HGNC]
  • THAP3:THAP domain containing 3 [Gene - OMIM - HGNC]
  • TNFRSF14:TNF receptor superfamily member 14 [Gene - OMIM - HGNC]
  • TNFRSF18:TNF receptor superfamily member 18 [Gene - OMIM - HGNC]
  • TNFRSF1B:TNF receptor superfamily member 1B [Gene - OMIM - HGNC]
  • TNFRSF25:TNF receptor superfamily member 25 [Gene - OMIM - HGNC]
  • TNFRSF4:TNF receptor superfamily member 4 [Gene - OMIM - HGNC]
  • TNFRSF8:TNF receptor superfamily member 8 [Gene - OMIM - HGNC]
  • TNFRSF9:TNF receptor superfamily member 9 [Gene - OMIM - HGNC]
  • UBXN10:UBX domain protein 10 [Gene - OMIM - HGNC]
  • GALE:UDP-galactose-4-epimerase [Gene - OMIM - HGNC]
  • UBIAD1:UbiA prenyltransferase domain containing 1 [Gene - OMIM - HGNC]
  • WRAP73:WD repeat containing, antisense to TP73 [Gene - OMIM - HGNC]
  • WNT4:Wnt family member 4 [Gene - OMIM - HGNC]
  • ACTL8:actin like 8 [Gene - HGNC]
  • ACTRT2:actin related protein T2 [Gene - OMIM - HGNC]
  • ACOT7:acyl-CoA thioesterase 7 [Gene - OMIM - HGNC]
  • AJAP1:adherens junctions associated protein 1 [Gene - OMIM - HGNC]
  • AGMAT:agmatinase [Gene - OMIM - HGNC]
  • AGRN:agrin [Gene - OMIM - HGNC]
  • ALDH4A1:aldehyde dehydrogenase 4 family member A1 [Gene - OMIM - HGNC]
  • AKR7L:aldo-keto reductase family 7 like (gene/pseudogene) [Gene - OMIM - HGNC]
  • AKR7A2:aldo-keto reductase family 7 member A2 [Gene - OMIM - HGNC]
  • AKR7A3:aldo-keto reductase family 7 member A3 [Gene - OMIM - HGNC]
  • ALPL:alkaline phosphatase, biomineralization associated [Gene - OMIM - HGNC]
  • FUCA1:alpha-L-fucosidase 1 [Gene - OMIM - HGNC]
  • ANGPTL7:angiopoietin like 7 [Gene - OMIM - HGNC]
  • AGTRAP:angiotensin II receptor associated protein [Gene - OMIM - HGNC]
  • ANKRD65:ankyrin repeat domain 65 [Gene - HGNC]
  • RERE:arginine-glutamic acid dipeptide repeats [Gene - OMIM - HGNC]
  • AADACL3:arylacetamide deacetylase like 3 [Gene - HGNC]
  • AADACL4:arylacetamide deacetylase like 4 [Gene - HGNC]
  • AURKAIP1:aurora kinase A interacting protein 1 [Gene - OMIM - HGNC]
  • B3GALT6:beta-1,3-galactosyltransferase 6 [Gene - OMIM - HGNC]
  • CAMK2N1:calcium/calmodulin dependent protein kinase II inhibitor 1 [Gene - OMIM - HGNC]
  • CAMTA1:calmodulin binding transcription activator 1 [Gene - OMIM - HGNC]
  • CALML6:calmodulin like 6 [Gene - OMIM - HGNC]
  • CLSTN1:calsyntenin 1 [Gene - OMIM - HGNC]
  • CNR2:cannabinoid receptor 2 [Gene - OMIM - HGNC]
  • CAPZB:capping actin protein of muscle Z-line subunit beta [Gene - OMIM - HGNC]
  • CA6:carbonic anhydrase 6 [Gene - OMIM - HGNC]
  • CASP9:caspase 9 [Gene - OMIM - HGNC]
  • CASZ1:castor zinc finger 1 [Gene - OMIM - HGNC]
  • CTNNBIP1:catenin beta interacting protein 1 [Gene - OMIM - HGNC]
  • CDC42:cell division cycle 42 [Gene - OMIM - HGNC]
  • CENPS:centromere protein S [Gene - OMIM - HGNC]
  • CEP104:centrosomal protein 104 [Gene - OMIM - HGNC]
  • CPTP:ceramide-1-phosphate transfer protein [Gene - OMIM - HGNC]
  • CLCN6:chloride voltage-gated channel 6 [Gene - OMIM - HGNC]
  • CLCNKA:chloride voltage-gated channel Ka [Gene - OMIM - HGNC]
  • CLCNKB:chloride voltage-gated channel Kb [Gene - OMIM - HGNC]
  • CHD5:chromodomain helicase DNA binding protein 5 [Gene - OMIM - HGNC]
  • C1orf127:chromosome 1 open reading frame 127 [Gene - OMIM - HGNC]
  • C1orf159:chromosome 1 open reading frame 159 [Gene - HGNC]
  • C1orf167:chromosome 1 open reading frame 167 [Gene - HGNC]
  • C1orf174:chromosome 1 open reading frame 174 [Gene - HGNC]
  • CTRC:chymotrypsin C [Gene - OMIM - HGNC]
  • CELA2A:chymotrypsin like elastase 2A [Gene - OMIM - HGNC]
  • CELA2B:chymotrypsin like elastase 2B [Gene - OMIM - HGNC]
  • CELA3A:chymotrypsin like elastase 3A [Gene - OMIM - HGNC]
  • CELA3B:chymotrypsin like elastase 3B [Gene - OMIM - HGNC]
  • CFAP107:cilia and flagella associated protein 107 [Gene - HGNC]
  • CFAP74:cilia and flagella associated protein 74 [Gene - OMIM - HGNC]
  • CROCC:ciliary rootlet coiled-coil, rootletin [Gene - OMIM - HGNC]
  • CPLANE2:ciliogenesis and planar polarity effector complex subunit 2 [Gene - OMIM - HGNC]
  • CCDC27:coiled-coil domain containing 27 [Gene - HGNC]
  • C1QA:complement C1q A chain [Gene - OMIM - HGNC]
  • C1QB:complement C1q B chain [Gene - OMIM - HGNC]
  • C1QC:complement C1q C chain [Gene - OMIM - HGNC]
  • CORT:cortistatin [Gene - OMIM - HGNC]
  • CCNL2:cyclin L2 [Gene - OMIM - HGNC]
  • CDK11A:cyclin dependent kinase 11A [Gene - OMIM - HGNC]
  • CDK11B:cyclin dependent kinase 11B [Gene - OMIM - HGNC]
  • CDA:cytidine deaminase [Gene - OMIM - HGNC]
  • DHRS3:dehydrogenase/reductase 3 [Gene - OMIM - HGNC]
  • DVL1:dishevelled segment polarity protein 1 [Gene - OMIM - HGNC]
  • DISP3:dispatched RND transporter family member 3 [Gene - OMIM - HGNC]
  • DDOST:dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit [Gene - OMIM - HGNC]
  • DRAXIN:dorsal inhibitory axon guidance protein [Gene - OMIM - HGNC]
  • ELOA:elongin A [Gene - OMIM - HGNC]
  • ECE1:endothelin converting enzyme 1 [Gene - OMIM - HGNC]
  • ENO1:enolase 1 [Gene - OMIM - HGNC]
  • ESPN:espin [Gene - OMIM - HGNC]
  • EIF4G3:eukaryotic translation initiation factor 4 gamma 3 [Gene - OMIM - HGNC]
  • EXOSC10:exosome component 10 [Gene - OMIM - HGNC]
  • FAM131C:family with sequence similarity 131 member C [Gene - HGNC]
  • FAM43B:family with sequence similarity 43 member B [Gene - HGNC]
  • FNDC10:fibronectin type III domain containing 10 [Gene - HGNC]
  • FBLIM1:filamin binding LIM protein 1 [Gene - OMIM - HGNC]
  • FHAD1:forkhead associated phosphopeptide binding domain 1 [Gene - HGNC]
  • GABRD:gamma-aminobutyric acid type A receptor subunit delta [Gene - OMIM - HGNC]
  • GRHL3:grainyhead like transcription factor 3 [Gene - OMIM - HGNC]
  • HSPB7:heat shock protein family B (small) member 7 [Gene - OMIM - HGNC]
  • HSPG2:heparan sulfate proteoglycan 2 [Gene - OMIM - HGNC]
  • HES2:hes family bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • HES3:hes family bHLH transcription factor 3 [Gene - OMIM - HGNC]
  • HES4:hes family bHLH transcription factor 4 [Gene - OMIM - HGNC]
  • HES5:hes family bHLH transcription factor 5 [Gene - OMIM - HGNC]
  • HP1BP3:heterochromatin protein 1 binding protein 3 [Gene - OMIM - HGNC]
  • HNRNPCL1:heterogeneous nuclear ribonucleoprotein C like 1 [Gene - HGNC]
  • HNRNPCL2:heterogeneous nuclear ribonucleoprotein C like 2 [Gene - HGNC]
  • HNRNPR:heterogeneous nuclear ribonucleoprotein R [Gene - OMIM - HGNC]
  • H6PD:hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase [Gene - OMIM - HGNC]
  • IGSF21:immunoglobin superfamily member 21 [Gene - HGNC]
  • ID3:inhibitor of DNA binding 3 [Gene - OMIM - HGNC]
  • INTS11:integrator complex subunit 11 [Gene - OMIM - HGNC]
  • IFNLR1:interferon lambda receptor 1 [Gene - OMIM - HGNC]
  • IL22RA1:interleukin 22 receptor subunit alpha 1 [Gene - OMIM - HGNC]
  • IFFO2:intermediate filament family orphan 2 [Gene - HGNC]
  • ICMT:isoprenylcysteine carboxyl methyltransferase [Gene - OMIM - HGNC]
  • KAZN:kazrin, periplakin interacting protein [Gene - OMIM - HGNC]
  • KLHDC7A:kelch domain containing 7A [Gene - HGNC]
  • KLHL21:kelch like family member 21 [Gene - OMIM - HGNC]
  • KIF17:kinesin family member 17 [Gene - OMIM - HGNC]
  • KIF1B:kinesin family member 1B [Gene - OMIM - HGNC]
  • LACTBL1:lactamase beta like 1 [Gene - HGNC]
  • LRRC38:leucine rich repeat containing 38 [Gene - OMIM - HGNC]
  • LRRC47:leucine rich repeat containing 47 [Gene - OMIM - HGNC]
  • LZIC:leucine zipper and CTNNBIP1 domain containing [Gene - OMIM - HGNC]
  • LUZP1:leucine zipper protein 1 [Gene - OMIM - HGNC]
  • LINC01783:long intergenic non-protein coding RNA 1783 [Gene - HGNC]
  • LDLRAD2:low density lipoprotein receptor class A domain containing 2 [Gene - HGNC]
  • KDM1A:lysine demethylase 1A [Gene - OMIM - HGNC]
  • LYPLA2:lysophospholipase 2 [Gene - OMIM - HGNC]
  • MMP23B:matrix metallopeptidase 23B [Gene - OMIM - HGNC]
  • MXRA8:matrix remodeling associated 8 [Gene - OMIM - HGNC]
  • MTOR:mechanistic target of rapamycin kinase [Gene - OMIM - HGNC]
  • MMEL1:membrane metalloendopeptidase like 1 [Gene - OMIM - HGNC]
  • MTHFR:methylenetetrahydrofolate reductase [Gene - OMIM - HGNC]
  • MIR200A:microRNA 200a [Gene - OMIM - HGNC]
  • MIR200B:microRNA 200b [Gene - OMIM - HGNC]
  • MIR34A:microRNA 34a [Gene - OMIM - HGNC]
  • MIR429:microRNA 429 [Gene - OMIM - HGNC]
  • MIR551A:microRNA 551a [Gene - OMIM - HGNC]
  • MFAP2:microfibril associated protein 2 [Gene - OMIM - HGNC]
  • MIIP:migration and invasion inhibitory protein [Gene - OMIM - HGNC]
  • MUL1:mitochondrial E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • MICOS10:mitochondrial contact site and cristae organizing system subunit 10 [Gene - OMIM - HGNC]
  • MRPL20:mitochondrial ribosomal protein L20 [Gene - OMIM - HGNC]
  • MFN2:mitofusin 2 [Gene - OMIM - HGNC]
  • MAD2L2:mitotic arrest deficient 2 like 2 [Gene - OMIM - HGNC]
  • MEGF6:multiple EGF like domains 6 [Gene - OMIM - HGNC]
  • MDS2:myelodysplastic syndrome 2 translocation associated [Gene - OMIM - HGNC]
  • MYOM3:myomesin 3 [Gene - OMIM - HGNC]
  • NPPA:natriuretic peptide A [Gene - OMIM - HGNC]
  • NPPB:natriuretic peptide B [Gene - OMIM - HGNC]
  • NPHP4:nephrocystin 4 [Gene - OMIM - HGNC]
  • NMNAT1:nicotinamide nucleotide adenylyltransferase 1 [Gene - OMIM - HGNC]
  • NOL9:nucleolar protein 9 [Gene - OMIM - HGNC]
  • PAX7:paired box 7 [Gene - OMIM - HGNC]
  • PANK4:pantothenate kinase 4 (inactive) [Gene - OMIM - HGNC]
  • PADI1:peptidyl arginine deiminase 1 [Gene - OMIM - HGNC]
  • PADI2:peptidyl arginine deiminase 2 [Gene - OMIM - HGNC]
  • PADI3:peptidyl arginine deiminase 3 [Gene - OMIM - HGNC]
  • PADI4:peptidyl arginine deiminase 4 [Gene - OMIM - HGNC]
  • PADI6:peptidyl arginine deiminase 6 [Gene - OMIM - HGNC]
  • PER3:period circadian regulator 3 [Gene - OMIM - HGNC]
  • PRXL2B:peroxiredoxin like 2B [Gene - HGNC]
  • PEX10:peroxisomal biogenesis factor 10 [Gene - OMIM - HGNC]
  • PEX14:peroxisomal biogenesis factor 14 [Gene - OMIM - HGNC]
  • PIK3CD:phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta [Gene - OMIM - HGNC]
  • PGD:phosphogluconate dehydrogenase [Gene - OMIM - HGNC]
  • PLA2G2A:phospholipase A2 group IIA [Gene - OMIM - HGNC]
  • PLA2G2C:phospholipase A2 group IIC [Gene - HGNC]
  • PLA2G2D:phospholipase A2 group IID [Gene - OMIM - HGNC]
  • PLA2G2E:phospholipase A2 group IIE [Gene - OMIM - HGNC]
  • PLA2G2F:phospholipase A2 group IIF [Gene - OMIM - HGNC]
  • PLA2G5:phospholipase A2 group V [Gene - OMIM - HGNC]
  • PLCH2:phospholipase C eta 2 [Gene - OMIM - HGNC]
  • PLEKHM2:pleckstrin homology and RUN domain containing M2 [Gene - OMIM - HGNC]
  • PLEKHG5:pleckstrin homology and RhoGEF domain containing G5 [Gene - OMIM - HGNC]
  • PLEKHN1:pleckstrin homology domain containing N1 [Gene - HGNC]
  • PDPN:podoplanin [Gene - OMIM - HGNC]
  • KCNAB2:potassium voltage-gated channel subfamily A regulatory beta subunit 2 [Gene - OMIM - HGNC]
  • PLOD1:procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 [Gene - OMIM - HGNC]
  • PNRC2:proline rich nuclear receptor coactivator 2 [Gene - OMIM - HGNC]
  • PRKCZ:protein kinase C zeta [Gene - OMIM - HGNC]
  • PUSL1:pseudouridine synthase like 1 [Gene - HGNC]
  • RCC2:regulator of chromosome condensation 2 [Gene - OMIM - HGNC]
  • RSC1A1:regulator of solute carriers 1 [Gene - OMIM - HGNC]
  • RER1:retention in endoplasmic reticulum sorting receptor 1 [Gene - OMIM - HGNC]
  • RBP7:retinol binding protein 7 [Gene - OMIM - HGNC]
  • RPL11:ribosomal protein L11 [Gene - OMIM - HGNC]
  • RPL22:ribosomal protein L22 [Gene - OMIM - HGNC]
  • RNF186:ring finger protein 186 [Gene - OMIM - HGNC]
  • RNF207:ring finger protein 207 [Gene - OMIM - HGNC]
  • RNF223:ring finger protein 223 [Gene - HGNC]
  • SRSF10:serine and arginine rich splicing factor 10 [Gene - OMIM - HGNC]
  • SMIM1:small integral membrane protein 1 (Vel blood group) [Gene - OMIM - HGNC]
  • SCNN1D:sodium channel epithelial 1 subunit delta [Gene - OMIM - HGNC]
  • SLC2A5:solute carrier family 2 member 5 [Gene - OMIM - HGNC]
  • SLC2A7:solute carrier family 2 member 7 [Gene - OMIM - HGNC]
  • SLC25A33:solute carrier family 25 member 33 [Gene - OMIM - HGNC]
  • SLC25A34:solute carrier family 25 member 34 [Gene - OMIM - HGNC]
  • SLC35E2A:solute carrier family 35 member E2A [Gene - HGNC]
  • SLC35E2B:solute carrier family 35 member E2B [Gene - OMIM - HGNC]
  • SLC45A1:solute carrier family 45 member 1 [Gene - OMIM - HGNC]
  • SLC66A1:solute carrier family 66 member 1 [Gene - OMIM - HGNC]
  • SPEN:spen family transcriptional repressor [Gene - OMIM - HGNC]
  • STPG1:sperm tail PG-rich repeat containing 1 [Gene - OMIM - HGNC]
  • SPATA21:spermatogenesis associated 21 [Gene - HGNC]
  • SRM:spermidine synthase [Gene - OMIM - HGNC]
  • SPSB1:splA/ryanodine receptor domain and SOCS box containing 1 [Gene - OMIM - HGNC]
  • SRARP:steroid receptor associated and regulated protein [Gene - OMIM - HGNC]
  • SDF4:stromal cell derived factor 4 [Gene - OMIM - HGNC]
  • SDHB:succinate dehydrogenase complex iron sulfur subunit B [Gene - OMIM - HGNC]
  • TRQ-CTG14-1:tRNA-Gln (anticodon CTG) 14-1 [Gene - HGNC]
  • TRE-TTC3-1:tRNA-Glu (anticodon TTC) 3-1 [Gene - OMIM - HGNC]
  • TRG-CCC1-1:tRNA-Gly (anticodon CCC) 1-1 [Gene - OMIM - HGNC]
  • TAS1R1:taste 1 receptor member 1 [Gene - OMIM - HGNC]
  • TAS1R2:taste 1 receptor member 2 [Gene - OMIM - HGNC]
  • TAS1R3:taste 1 receptor member 3 [Gene - OMIM - HGNC]
  • TEX46:testis expressed 46 [Gene - HGNC]
  • TTC34:tetratricopeptide repeat domain 34 [Gene - HGNC]
  • TCEA3:transcription elongation factor A3 [Gene - OMIM - HGNC]
  • TMCO4:transmembrane and coiled-coil domains 4 [Gene - HGNC]
  • TMEM201:transmembrane protein 201 [Gene - HGNC]
  • TMEM240:transmembrane protein 240 [Gene - OMIM - HGNC]
  • TMEM51:transmembrane protein 51 [Gene - HGNC]
  • TMEM52:transmembrane protein 52 [Gene - HGNC]
  • TMEM82:transmembrane protein 82 [Gene - HGNC]
  • TMEM88B:transmembrane protein 88B [Gene - HGNC]
  • TTLL10:tubulin tyrosine ligase like 10 [Gene - HGNC]
  • TPRG1L:tumor protein p63 regulated 1 like [Gene - OMIM - HGNC]
  • TP73:tumor protein p73 [Gene - OMIM - HGNC]
  • UBE2J2:ubiquitin conjugating enzyme E2 J2 [Gene - OMIM - HGNC]
  • UBR4:ubiquitin protein ligase E3 component n-recognin 4 [Gene - OMIM - HGNC]
  • USP48:ubiquitin specific peptidase 48 [Gene - OMIM - HGNC]
  • UBE4B:ubiquitination factor E4B [Gene - OMIM - HGNC]
  • UTS2:urotensin 2 [Gene - OMIM - HGNC]
  • VPS13D:vacuolar protein sorting 13 homolog D [Gene - OMIM - HGNC]
  • VAMP3:vesicle associated membrane protein 3 [Gene - OMIM - HGNC]
  • VWA1:von Willebrand factor A domain containing 1 [Gene - OMIM - HGNC]
  • VWA5B1:von Willebrand factor A domain containing 5B1 [Gene - HGNC]
  • ZBTB17:zinc finger and BTB domain containing 17 [Gene - OMIM - HGNC]
  • ZBTB40:zinc finger and BTB domain containing 40 [Gene - OMIM - HGNC]
  • ZBTB48:zinc finger and BTB domain containing 48 [Gene - OMIM - HGNC]
  • ZNF436:zinc finger protein 436 [Gene - OMIM - HGNC]
Variant type:
Complex
Cytogenetic location:
1p36.33-36.11
Genomic location:
Chr1: 909238 - 24706269 (on Assembly GRCh37)

Condition(s)

Name:
Breast ductal adenocarcinoma
Synonyms:
Ductal breast carcinoma; Breast cancer, invasive ductal
Identifiers:
MONDO: MONDO:0005590; MedGen: C1527349

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000258684Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc.
no assertion criteria provided
Uncertain significance
(Jul 20, 2015) 		somaticresearch

Help

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., SCV000258684.1

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

Last Updated: Feb 14, 2024