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Single allele AND Glioma

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 5, 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:
RCV000754871.1

Allele description

Genes:
  • ARID3C:AT-rich interaction domain 3C [Gene - OMIM - HGNC]
  • BAG1:BAG cochaperone 1 [Gene - OMIM - HGNC]
  • BANCR:BRAF-activated non-protein coding RNA [Gene - OMIM - HGNC]
  • CCL19:C-C motif chemokine ligand 19 [Gene - OMIM - HGNC]
  • CCL21:C-C motif chemokine ligand 21 [Gene - OMIM - HGNC]
  • CCL27:C-C motif chemokine ligand 27 [Gene - OMIM - HGNC]
  • C9orf72:C9orf72-SMCR8 complex subunit [Gene - OMIM - HGNC]
  • CARNMT1-AS1:CARNMT1 antisense RNA 1 [Gene - HGNC]
  • CD72:CD72 molecule [Gene - OMIM - HGNC]
  • DCAF10:DDB1 and CUL4 associated factor 10 [Gene - OMIM - HGNC]
  • DCAF12:DDB1 and CUL4 associated factor 12 [Gene - OMIM - HGNC]
  • DNAJA1:DnaJ heat shock protein family (Hsp40) member A1 [Gene - OMIM - HGNC]
  • DNAJB5:DnaJ heat shock protein family (Hsp40) member B5 [Gene - OMIM - HGNC]
  • ELAVL2:ELAV like RNA binding protein 2 [Gene - OMIM - HGNC]
  • FBXO10:F-box protein 10 [Gene - OMIM - HGNC]
  • FANCG:FA complementation group G [Gene - OMIM - HGNC]
  • FRMPD1:FERM and PDZ domain containing 1 [Gene - OMIM - HGNC]
  • FRMD3:FERM domain containing 3 [Gene - OMIM - HGNC]
  • GKAP1:G kinase anchoring protein 1 [Gene - OMIM - HGNC]
  • GNA14:G protein subunit alpha 14 [Gene - OMIM - HGNC]
  • GNAQ:G protein subunit alpha q [Gene - OMIM - HGNC]
  • GLIPR2:GLI pathogenesis related 2 [Gene - OMIM - HGNC]
  • IDNK:IDNK gluconokinase [Gene - OMIM - HGNC]
  • IZUMO3:IZUMO family member 3 [Gene - OMIM - HGNC]
  • KLF9:KLF transcription factor 9 [Gene - OMIM - HGNC]
  • MAMDC2:MAM domain containing 2 [Gene - OMIM - HGNC]
  • MOB3B:MOB kinase activator 3B [Gene - OMIM - HGNC]
  • NDUFB6:NADH:ubiquinone oxidoreductase subunit B6 [Gene - OMIM - HGNC]
  • PHF24:PHD finger protein 24 [Gene - OMIM - HGNC]
  • PABIR1:PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1 [Gene - OMIM - HGNC]
  • QNG1:Q-nucleotide N-glycosylase 1 [Gene - OMIM - HGNC]
  • RORB:RAR related orphan receptor B [Gene - OMIM - HGNC]
  • RASEF:RAS and EF-hand domain containing [Gene - OMIM - HGNC]
  • RGP1:RGP1 homolog, RAB6A GEF complex partner 1 [Gene - OMIM - HGNC]
  • RMRP:RNA component of mitochondrial RNA processing endoribonuclease [Gene - OMIM - HGNC]
  • POLR1E:RNA polymerase I subunit E [Gene - OMIM - HGNC]
  • RIGI:RNA sensor RIG-I [Gene - OMIM - HGNC]
  • RUSC2:RUN and SH3 domain containing 2 [Gene - OMIM - HGNC]
  • RMI1:RecQ mediated genome instability 1 [Gene - OMIM - HGNC]
  • ARHGEF39:Rho guanine nucleotide exchange factor 39 [Gene - HGNC]
  • SHB:SH2 domain containing adaptor protein B [Gene - OMIM - HGNC]
  • SMU1:SMU1 DNA replication regulator and spliceosomal factor [Gene - OMIM - HGNC]
  • SPATA31A1:SPATA31 subfamily A member 1 [Gene - HGNC]
  • SPATA31A3:SPATA31 subfamily A member 3 [Gene - HGNC]
  • SPATA31A5:SPATA31 subfamily A member 5 [Gene - HGNC]
  • SPATA31A6:SPATA31 subfamily A member 6 [Gene - HGNC]
  • SPATA31A7:SPATA31 subfamily A member 7 [Gene - OMIM - HGNC]
  • SPATA31D1:SPATA31 subfamily D member 1 [Gene - HGNC]
  • SPATA31D3:SPATA31 subfamily D member 3 [Gene - HGNC]
  • SPATA31D4:SPATA31 subfamily D member 4 [Gene - HGNC]
  • SPATA31F1:SPATA31 subfamily F member 1 [Gene - HGNC]
  • SPATA31G1:SPATA31 subfamily G member 1 [Gene - HGNC]
  • TAF1L:TATA-box binding protein associated factor 1 like [Gene - OMIM - HGNC]
  • TEK:TEK receptor tyrosine kinase [Gene - OMIM - HGNC]
  • TLE1:TLE family member 1, transcriptional corepressor [Gene - OMIM - HGNC]
  • TLE4:TLE family member 4, transcriptional corepressor [Gene - OMIM - HGNC]
  • TOPORS:TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase [Gene - OMIM - HGNC]
  • ZNG1C:Zn regulated GTPase metalloprotein activator 1C [Gene - OMIM - HGNC]
  • ZNG1E:Zn regulated GTPase metalloprotein activator 1E [Gene - HGNC]
  • ZNG1F:Zn regulated GTPase metalloprotein activator 1F [Gene - HGNC]
  • ABHD17B:abhydrolase domain containing 17B, depalmitoylase [Gene - OMIM - HGNC]
  • ACO1:aconitase 1 [Gene - OMIM - HGNC]
  • ALDH1A1:aldehyde dehydrogenase 1 family member A1 [Gene - OMIM - HGNC]
  • ALDH1B1:aldehyde dehydrogenase 1 family member B1 [Gene - OMIM - HGNC]
  • APBA1:amyloid beta precursor protein binding family A member 1 [Gene - OMIM - HGNC]
  • ANKRD18A:ankyrin repeat domain 18A [Gene - OMIM - HGNC]
  • ANKRD18B:ankyrin repeat domain 18B [Gene - OMIM - HGNC]
  • ANKRD20A1:ankyrin repeat domain 20 family member A1 [Gene - HGNC]
  • ANXA1:annexin A1 [Gene - OMIM - HGNC]
  • APTX:aprataxin [Gene - OMIM - HGNC]
  • AQP3:aquaporin 3 (Gill blood group) [Gene - OMIM - HGNC]
  • AQP7:aquaporin 7 [Gene - OMIM - HGNC]
  • ATOSB:atos homolog B [Gene - OMIM - HGNC]
  • B4GALT1:beta-1,4-galactosyltransferase 1 [Gene - OMIM - HGNC]
  • CREB3:cAMP responsive element binding protein 3 [Gene - OMIM - HGNC]
  • CCIN:calicin [Gene - OMIM - HGNC]
  • CA9:carbonic anhydrase 9 [Gene - OMIM - HGNC]
  • CARNMT1:carnosine N-methyltransferase 1 [Gene - OMIM - HGNC]
  • CAAP1:caspase activity and apoptosis inhibitor 1 [Gene - HGNC]
  • CEMIP2:cell migration inducing hyaluronidase 2 [Gene - OMIM - HGNC]
  • CEP78:centrosomal protein 78 [Gene - OMIM - HGNC]
  • CHMP5:charged multivesicular body protein 5 [Gene - OMIM - HGNC]
  • C9orf40:chromosome 9 open reading frame 40 [Gene - HGNC]
  • C9orf57:chromosome 9 open reading frame 57 [Gene - HGNC]
  • C9orf85:chromosome 9 open reading frame 85 [Gene - OMIM - HGNC]
  • CFAP95:cilia and flagella associated protein 95 [Gene - HGNC]
  • CIMIP2B:ciliary microtubule inner protein 2B [Gene - HGNC]
  • CNTFR:ciliary neurotrophic factor receptor [Gene - OMIM - HGNC]
  • CLTA:clathrin light chain A [Gene - OMIM - HGNC]
  • CCDC107:coiled-coil domain containing 107 [Gene - HGNC]
  • CNTNAP3:contactin associated protein family member 3 [Gene - OMIM - HGNC]
  • CNTNAP3B:contactin associated protein family member 3B [Gene - HGNC]
  • DCTN3:dynactin subunit 3 [Gene - OMIM - HGNC]
  • DNAI1:dynein axonemal intermediate chain 1 [Gene - OMIM - HGNC]
  • ENTREP1:endosomal transmembrane epsin interactor 1 [Gene - OMIM - HGNC]
  • ENHO:energy homeostasis associated [Gene - OMIM - HGNC]
  • EQTN:equatorin [Gene - OMIM - HGNC]
  • EXOSC3:exosome component 3 [Gene - OMIM - HGNC]
  • FAM219A:family with sequence similarity 219 member A [Gene - HGNC]
  • FAM221B:family with sequence similarity 221 member B [Gene - HGNC]
  • FAM27D1:family with sequence similarity 27 member D1 [Gene - HGNC]
  • FOXB2:forkhead box B2 [Gene - OMIM - HGNC]
  • FOXD4L3:forkhead box D4 like 3 [Gene - OMIM - HGNC]
  • FOXD4L4:forkhead box D4 like 4 [Gene - OMIM - HGNC]
  • FOXD4L5:forkhead box D4 like 5 [Gene - HGNC]
  • FOXD4L6:forkhead box D4 like 6 [Gene - HGNC]
  • FXN:frataxin [Gene - OMIM - HGNC]
  • GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]
  • GNE:glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase [Gene - OMIM - HGNC]
  • GCNT1:glucosaminyl (N-acetyl) transferase 1 [Gene - OMIM - HGNC]
  • GBA2:glucosylceramidase beta 2 [Gene - OMIM - HGNC]
  • GRHPR:glyoxylate and hydroxypyruvate reductase [Gene - OMIM - HGNC]
  • GDA:guanine deaminase [Gene - OMIM - HGNC]
  • HNRNPK:heterogeneous nuclear ribonucleoprotein K [Gene - OMIM - HGNC]
  • HRCT1:histidine rich carboxyl terminus 1 [Gene - HGNC]
  • HINT2:histidine triad nucleotide binding protein 2 [Gene - OMIM - HGNC]
  • IGFBPL1:insulin like growth factor binding protein like 1 [Gene - OMIM - HGNC]
  • IL11RA:interleukin 11 receptor subunit alpha [Gene - OMIM - HGNC]
  • IFT74:intraflagellar transport 74 [Gene - OMIM - HGNC]
  • KIF24:kinesin family member 24 [Gene - OMIM - HGNC]
  • KIF27:kinesin family member 27 [Gene - OMIM - HGNC]
  • LINGO2:leucine rich repeat and Ig domain containing 2 [Gene - OMIM - HGNC]
  • LRRC19:leucine rich repeat containing 19 [Gene - OMIM - HGNC]
  • LINC00537:long intergenic non-protein coding RNA 537 [Gene - HGNC]
  • MELK:maternal embryonic leucine zipper kinase [Gene - OMIM - HGNC]
  • MIR204:microRNA 204 [Gene - OMIM - HGNC]
  • MIR7-1:microRNA 7-1 [Gene - OMIM - HGNC]
  • MSMP:microseminoprotein, prostate associated [Gene - OMIM - HGNC]
  • MYORG:myogenesis regulating glycosidase [Gene - OMIM - HGNC]
  • NPR2:natriuretic peptide receptor 2 [Gene - OMIM - HGNC]
  • NTRK2:neurotrophic receptor tyrosine kinase 2 [Gene - OMIM - HGNC]
  • NMRK1:nicotinamide riboside kinase 1 [Gene - OMIM - HGNC]
  • NFX1:nuclear transcription factor, X-box binding 1 [Gene - OMIM - HGNC]
  • NOL6:nucleolar protein 6 [Gene - OMIM - HGNC]
  • NUDT2:nudix hydrolase 2 [Gene - OMIM - HGNC]
  • OR13J1:olfactory receptor family 13 subfamily J member 1 [Gene - HGNC]
  • OR2S2:olfactory receptor family 2 subfamily S member 2 [Gene - HGNC]
  • OSTF1:osteoclast stimulating factor 1 [Gene - OMIM - HGNC]
  • PAX5:paired box 5 [Gene - OMIM - HGNC]
  • PIGO:phosphatidylinositol glycan anchor biosynthesis class O [Gene - OMIM - HGNC]
  • PIP5K1B:phosphatidylinositol-4-phosphate 5-kinase type 1 beta [Gene - OMIM - HGNC]
  • PGM5:phosphoglucomutase 5 [Gene - OMIM - HGNC]
  • PLAA:phospholipase A2 activating protein [Gene - OMIM - HGNC]
  • PSAT1:phosphoserine aminotransferase 1 [Gene - OMIM - HGNC]
  • PCSK5:proprotein convertase subtilisin/kexin type 5 [Gene - OMIM - HGNC]
  • PCA3:prostate cancer associated 3 [Gene - OMIM - HGNC]
  • PRKACG:protein kinase cAMP-activated catalytic subunit gamma [Gene - OMIM - HGNC]
  • PTAR1:protein prenyltransferase alpha subunit repeat containing 1 [Gene - OMIM - HGNC]
  • PRUNE2:prune homolog 2 with BCH domain [Gene - OMIM - HGNC]
  • RECK:reversion inducing cysteine rich protein with kazal motifs [Gene - OMIM - HGNC]
  • RFK:riboflavin kinase [Gene - OMIM - HGNC]
  • RPP25L:ribonuclease P/MRP subunit p25 like [Gene - HGNC]
  • RNF38:ring finger protein 38 [Gene - OMIM - HGNC]
  • SPINK4:serine peptidase inhibitor Kazal type 4 [Gene - OMIM - HGNC]
  • PRSS3:serine protease 3 [Gene - OMIM - HGNC]
  • SIGMAR1:sigma non-opioid intracellular receptor 1 [Gene - OMIM - HGNC]
  • SIT1:signaling threshold regulating transmembrane adaptor 1 [Gene - OMIM - HGNC]
  • SLC25A51:solute carrier family 25 member 51 [Gene - OMIM - HGNC]
  • SLC28A3:solute carrier family 28 member 3 [Gene - OMIM - HGNC]
  • SPAG8:sperm associated antigen 8 [Gene - OMIM - HGNC]
  • SPMIP6:sperm microtubule inner protein 6 [Gene - OMIM - HGNC]
  • STOML2:stomatin like 2 [Gene - OMIM - HGNC]
  • SMC5:structural maintenance of chromosomes 5 [Gene - OMIM - HGNC]
  • TRMT10B:tRNA methyltransferase 10B [Gene - OMIM - HGNC]
  • TLN1:talin 1 [Gene - OMIM - HGNC]
  • TESK1:testis associated actin remodelling kinase 1 [Gene - OMIM - HGNC]
  • TJP2:tight junction protein 2 [Gene - OMIM - HGNC]
  • TRPM3:transient receptor potential cation channel subfamily M member 3 [Gene - OMIM - HGNC]
  • TRPM6:transient receptor potential cation channel subfamily M member 6 [Gene - OMIM - HGNC]
  • TOMM5:translocase of outer mitochondrial membrane 5 [Gene - OMIM - HGNC]
  • TMC1:transmembrane channel like 1 [Gene - OMIM - HGNC]
  • TMEM215:transmembrane protein 215 [Gene - HGNC]
  • TMEM252:transmembrane protein 252 [Gene - HGNC]
  • TMEM8B:transmembrane protein 8B [Gene - OMIM - HGNC]
  • TPM2:tropomyosin 2 [Gene - OMIM - HGNC]
  • TUSC1:tumor suppressor candidate 1 [Gene - OMIM - HGNC]
  • UBQLN1:ubiquilin 1 [Gene - OMIM - HGNC]
  • UBAP1:ubiquitin associated protein 1 [Gene - OMIM - HGNC]
  • UBAP2:ubiquitin associated protein 2 [Gene - HGNC]
  • UBE2R2:ubiquitin conjugating enzyme E2 R2 [Gene - OMIM - HGNC]
  • UNC13B:unc-13 homolog B [Gene - OMIM - HGNC]
  • VPS13A:vacuolar protein sorting 13 homolog A [Gene - OMIM - HGNC]
  • VCP:valosin containing protein [Gene - OMIM - HGNC]
  • ZFAND5:zinc finger AN1-type containing 5 [Gene - OMIM - HGNC]
  • ZCCHC7:zinc finger CCHC-type containing 7 [Gene - HGNC]
  • ZBTB5:zinc finger and BTB domain containing 5 [Gene - OMIM - HGNC]
  • ZNF658:zinc finger protein 658 [Gene - OMIM - HGNC]
Variant type:
Complex
Cytogenetic location:
9p21.3-q21.33
Genomic location:
Chr9: 23524426 - 87359888 (on Assembly GRCh37)
HGVS:

    Condition(s)

    Name:
    Glioma
    Identifiers:
    MONDO: MONDO:0021042; MeSH: D005910; MedGen: C0017638; Human Phenotype Ontology: HP:0009733

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000882596Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics
    no assertion criteria provided
    		Likely pathogenic
    (Jun 5, 2017)     		somaticclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics, SCV000882596.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providedclinical testingnot provided

    Description

    FDA indication for advanced solid tumors with NTRK2 fusions.

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1somaticyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Apr 7, 2025