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GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 18, 2018
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:
RCV001006387.1

Allele description [Variation Report for GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3]

GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3

Genes:
  • ARL14EP:ADP ribosylation factor like GTPase 14 effector protein [Gene - OMIM - HGNC]
  • ABCC8:ATP binding cassette subfamily C member 8 [Gene - OMIM - HGNC]
  • BDNF-AS:BDNF antisense RNA [Gene - OMIM - HGNC]
  • BTBD10:BTB domain containing 10 [Gene - OMIM - HGNC]
  • CD59:CD59 molecule (CD59 blood group) [Gene - OMIM - HGNC]
  • COPB1:COPI coat complex subunit beta 1 [Gene - OMIM - HGNC]
  • DEPDC7:DEP domain containing 7 [Gene - OMIM - HGNC]
  • DNAJC24:DnaJ heat shock protein family (Hsp40) member C24 [Gene - OMIM - HGNC]
  • E2F8:E2F transcription factor 8 [Gene - OMIM - HGNC]
  • ELF5:E74 like ETS transcription factor 5 [Gene - OMIM - HGNC]
  • EHF:ETS homologous factor [Gene - OMIM - HGNC]
  • FBXO3:F-box protein 3 [Gene - OMIM - HGNC]
  • FANCF:FA complementation group F [Gene - OMIM - HGNC]
  • HTATIP2:HIV-1 Tat interactive protein 2 [Gene - OMIM - HGNC]
  • HPS5:HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 [Gene - OMIM - HGNC]
  • INSC:INSC spindle orientation adaptor protein [Gene - OMIM - HGNC]
  • KIAA1549L:KIAA1549 like [Gene - OMIM - HGNC]
  • LMO2:LIM domain only 2 [Gene - OMIM - HGNC]
  • MRGPRX1:MAS related GPR family member X1 [Gene - OMIM - HGNC]
  • MRGPRX2:MAS related GPR family member X2 [Gene - OMIM - HGNC]
  • MRGPRX3:MAS related GPR family member X3 [Gene - OMIM - HGNC]
  • MRGPRX4:MAS related GPR family member X4 [Gene - OMIM - HGNC]
  • MICALCL:MICAL C-terminal like [Gene - OMIM - HGNC]
  • NAT10:N-acetyltransferase 10 [Gene - OMIM - HGNC]
  • RRAS2:RAS related 2 [Gene - OMIM - HGNC]
  • RASSF10:Ras association domain family member 10 [Gene - OMIM - HGNC]
  • SAA2-SAA4:SAA2-SAA4 readthrough [Gene - HGNC]
  • SPTY2D1:SPT2 chromatin protein domain containing 1 [Gene - HGNC]
  • SOX6:SRY-box transcription factor 6 [Gene - OMIM - HGNC]
  • TEAD1:TEA domain transcription factor 1 [Gene - OMIM - HGNC]
  • UEVLD:UEV and lactate/malate dehyrogenase domains [Gene - OMIM - HGNC]
  • USH1C:USH1 protein network component harmonin [Gene - OMIM - HGNC]
  • WT1-AS:WT1 antisense RNA [Gene - OMIM - HGNC]
  • WT1:WT1 transcription factor [Gene - OMIM - HGNC]
  • ABTB2:ankyrin repeat and BTB domain containing 2 [Gene - HGNC]
  • ANO3:anoctamin 3 [Gene - OMIM - HGNC]
  • ANO5:anoctamin 5 [Gene - OMIM - HGNC]
  • BMAL1:basic helix-loop-helix ARNT like 1 [Gene - OMIM - HGNC]
  • BDNF:brain derived neurotrophic factor [Gene - OMIM - HGNC]
  • CALCA:calcitonin related polypeptide alpha [Gene - OMIM - HGNC]
  • CALCB:calcitonin related polypeptide beta [Gene - OMIM - HGNC]
  • CSNK2A3:casein kinase 2 alpha 3 [Gene - HGNC]
  • CAT:catalase [Gene - OMIM - HGNC]
  • CAPRIN1:cell cycle associated protein 1 [Gene - OMIM - HGNC]
  • C11orf58:chromosome 11 open reading frame 58 [Gene - OMIM - HGNC]
  • C11orf91:chromosome 11 open reading frame 91 [Gene - HGNC]
  • CSTF3:cleavage stimulation factor subunit 3 [Gene - OMIM - HGNC]
  • CCDC179:coiled-coil domain containing 179 [Gene - HGNC]
  • CCDC34:coiled-coil domain containing 34 [Gene - OMIM - HGNC]
  • CCDC73:coiled-coil domain containing 73 [Gene - OMIM - HGNC]
  • CSRP3:cysteine and glycine rich protein 3 [Gene - OMIM - HGNC]
  • CYP2R1:cytochrome P450 family 2 subfamily R member 1 [Gene - OMIM - HGNC]
  • DBX1:developing brain homeobox 1 [Gene - OMIM - HGNC]
  • DKK3:dickkopf WNT signaling pathway inhibitor 3 [Gene - OMIM - HGNC]
  • DCDC1:doublecortin domain containing 1 [Gene - OMIM - HGNC]
  • ELP4:elongator acetyltransferase complex subunit 4 [Gene - OMIM - HGNC]
  • EIF3M:eukaryotic translation initiation factor 3 subunit M [Gene - OMIM - HGNC]
  • FAR1:fatty acyl-CoA reductase 1 [Gene - OMIM - HGNC]
  • FIBIN:fin bud initiation factor homolog [Gene - OMIM - HGNC]
  • FSHB:follicle stimulating hormone subunit beta [Gene - OMIM - HGNC]
  • BBOX1:gamma-butyrobetaine hydroxylase 1 [Gene - OMIM - HGNC]
  • GTF2H1:general transcription factor IIH subunit 1 [Gene - OMIM - HGNC]
  • QSER1:glutamine and serine rich 1 [Gene - OMIM - HGNC]
  • GAS2:growth arrest specific 2 [Gene - OMIM - HGNC]
  • HIPK3:homeodomain interacting protein kinase 3 [Gene - OMIM - HGNC]
  • IGSF22:immunoglobulin superfamily member 22 [Gene - HGNC]
  • IMMP1L:inner mitochondrial membrane peptidase subunit 1 [Gene - OMIM - HGNC]
  • KIF18A:kinesin family member 18A [Gene - OMIM - HGNC]
  • LDHAL6A:lactate dehydrogenase A like 6A [Gene - OMIM - HGNC]
  • LDHA:lactate dehydrogenase A [Gene - OMIM - HGNC]
  • LDHC:lactate dehydrogenase C [Gene - OMIM - HGNC]
  • LGR4:leucine rich repeat containing G protein-coupled receptor 4 [Gene - OMIM - HGNC]
  • LUZP2:leucine zipper protein 2 [Gene - OMIM - HGNC]
  • LIN7C:lin-7 homolog C, crumbs cell polarity complex component [Gene - OMIM - HGNC]
  • LINC00294:long intergenic non-protein coding RNA 294 [Gene - OMIM - HGNC]
  • MPPED2:metallophosphoesterase domain containing 2 [Gene - OMIM - HGNC]
  • METTL15:methyltransferase 15, mitochondrial 12S rRNA N4-cytidine [Gene - OMIM - HGNC]
  • MIR610:microRNA 610 [Gene - OMIM - HGNC]
  • MICAL2:microtubule associated monooxygenase, calponin and LIM domain containing 2 [Gene - OMIM - HGNC]
  • MUC15:mucin 15, cell surface associated [Gene - OMIM - HGNC]
  • MYOD1:myogenic differentiation 1 [Gene - OMIM - HGNC]
  • NCR3LG1:natural killer cell cytotoxicity receptor 3 ligand 1 [Gene - OMIM - HGNC]
  • NELL1:neural EGFL like 1 [Gene - OMIM - HGNC]
  • NAV2:neuron navigator 2 [Gene - OMIM - HGNC]
  • NUCB2:nucleobindin 2 [Gene - OMIM - HGNC]
  • OTOG:otogelin [Gene - OMIM - HGNC]
  • PAX6:paired box 6 [Gene - OMIM - HGNC]
  • PTH:parathyroid hormone [Gene - OMIM - HGNC]
  • PARVA:parvin alpha [Gene - OMIM - HGNC]
  • PIK3C2A:phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha [Gene - OMIM - HGNC]
  • PDE3B:phosphodiesterase 3B [Gene - OMIM - HGNC]
  • PLEKHA7:pleckstrin homology domain containing A7 [Gene - OMIM - HGNC]
  • GALNT18:polypeptide N-acetylgalactosaminyltransferase 18 [Gene - OMIM - HGNC]
  • KCNJ11:potassium inwardly rectifying channel subfamily J member 11 [Gene - OMIM - HGNC]
  • KCNA4:potassium voltage-gated channel subfamily A member 4 [Gene - OMIM - HGNC]
  • KCNC1:potassium voltage-gated channel subfamily C member 1 [Gene - OMIM - HGNC]
  • PRRG4:proline rich and Gla domain 4 [Gene - OMIM - HGNC]
  • PSMA1:proteasome 20S subunit alpha 1 [Gene - OMIM - HGNC]
  • PRMT3:protein arginine methyltransferase 3 [Gene - OMIM - HGNC]
  • PTPN5:protein tyrosine phosphatase non-receptor type 5 [Gene - OMIM - HGNC]
  • RCN1:reticulocalbin 1 [Gene - OMIM - HGNC]
  • RPS13:ribosomal protein S13 [Gene - OMIM - HGNC]
  • SERGEF:secretion regulating guanine nucleotide exchange factor [Gene - OMIM - HGNC]
  • SAAL1:serum amyloid A like 1 [Gene - HGNC]
  • SAA1:serum amyloid A1 [Gene - OMIM - HGNC]
  • SAA2:serum amyloid A2 [Gene - OMIM - HGNC]
  • SAA4:serum amyloid A4, constitutive [Gene - OMIM - HGNC]
  • SVIP:small VCP interacting protein [Gene - HGNC]
  • SLC17A6:solute carrier family 17 member 6 [Gene - OMIM - HGNC]
  • SLC5A12:solute carrier family 5 member 12 [Gene - OMIM - HGNC]
  • SLC6A5:solute carrier family 6 member 5 [Gene - OMIM - HGNC]
  • SPON1:spondin 1 [Gene - OMIM - HGNC]
  • TCP11L1:t-complex 11 like 1 [Gene - HGNC]
  • TMEM86A:transmembrane protein 86A [Gene - HGNC]
  • TPH1:tryptophan hydroxylase 1 [Gene - OMIM - HGNC]
  • TSG101:tumor susceptibility 101 [Gene - OMIM - HGNC]
  • USP47:ubiquitin specific peptidase 47 [Gene - OMIM - HGNC]
  • ZDHHC13:zinc finger DHHC-type palmitoyltransferase 13 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
11p15.3-13
Genomic location:
Chr11: 11053978 - 34732891 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: C3661900

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV001165945Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    		Pathogenic
    (Sep 18, 2018)     		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, SCV001165945.1

    #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 8, 2024