- This record was updated by the submitter. Please see the current version.
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 starsno assertion criteria provided
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno 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
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000258684 | Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc. | no assertion criteria provided | Uncertain significance (Jul 20, 2015) | somatic | research |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | somatic | yes | not provided | not provided | not provided | not provided | no | research |
Details of each submission
From Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc., SCV000258684.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | no | research | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | somatic | yes | not provided | left breast | not provided | not provided | not provided | not provided | not provided |
Last Updated: Feb 14, 2024