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GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 15, 2019
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:
RCV001006388.1

Allele description [Variation Report for GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3]

GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3

Genes:
  • ABCC8:ATP binding cassette subfamily C member 8 [Gene - OMIM - HGNC]
  • BDNF-AS:BDNF antisense RNA [Gene - OMIM - HGNC]
  • COPB1:COPI coat complex subunit beta 1 [Gene - OMIM - HGNC]
  • E2F8:E2F transcription factor 8 [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]
  • 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]
  • RRAS2:RAS related 2 [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]
  • UEVLD:UEV and lactate/malate dehyrogenase domains [Gene - OMIM - HGNC]
  • USH1C:USH1 protein network component harmonin [Gene - OMIM - HGNC]
  • ANO3:anoctamin 3 [Gene - OMIM - HGNC]
  • ANO5:anoctamin 5 [Gene - OMIM - HGNC]
  • CALCA:calcitonin related polypeptide alpha [Gene - OMIM - HGNC]
  • CALCB:calcitonin related polypeptide beta [Gene - OMIM - HGNC]
  • C11orf58:chromosome 11 open reading frame 58 [Gene - OMIM - HGNC]
  • CCDC179:coiled-coil domain containing 179 [Gene - HGNC]
  • CCDC34:coiled-coil domain containing 34 [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]
  • FIBIN:fin bud initiation factor homolog [Gene - OMIM - HGNC]
  • BBOX1:gamma-butyrobetaine hydroxylase 1 [Gene - OMIM - HGNC]
  • GTF2H1:general transcription factor IIH subunit 1 [Gene - OMIM - HGNC]
  • GAS2:growth arrest specific 2 [Gene - OMIM - HGNC]
  • IGSF22:immunoglobulin superfamily member 22 [Gene - 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]
  • 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]
  • 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]
  • KCNJ11:potassium inwardly rectifying channel subfamily J member 11 [Gene - OMIM - HGNC]
  • KCNC1:potassium voltage-gated channel subfamily C member 1 [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]
  • 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]
  • TMEM86A:transmembrane protein 86A [Gene - HGNC]
  • TPH1:tryptophan hydroxylase 1 [Gene - OMIM - HGNC]
  • TSG101:tumor susceptibility 101 [Gene - OMIM - HGNC]
  • ZDHHC13:zinc finger DHHC-type palmitoyltransferase 13 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
11p15.2-14.1
Genomic location:
Chr11: 13970757 - 27565888 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: C3661900

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV001165946Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    Pathogenic
    (Apr 15, 2019)
    germlineclinical testing

    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, SCV001165946.1

    #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