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GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 11, 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:
RCV000682166.1

Allele description [Variation Report for GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3]

GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3

Genes:
  • ATIC:5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase [Gene - OMIM - HGNC]
  • ADAM23:ADAM metallopeptidase domain 23 [Gene - OMIM - HGNC]
  • ABCA12:ATP binding cassette subfamily A member 12 [Gene - OMIM - HGNC]
  • BARD1:BRCA1 associated RING domain 1 [Gene - OMIM - HGNC]
  • CXCR1:C-X-C motif chemokine receptor 1 [Gene - OMIM - HGNC]
  • CXCR2:C-X-C motif chemokine receptor 2 [Gene - OMIM - HGNC]
  • FASTKD2:FAST kinase domains 2 [Gene - OMIM - HGNC]
  • GPBAR1:G protein-coupled bile acid receptor 1 [Gene - OMIM - HGNC]
  • IKZF2:IKAROS family zinc finger 2 [Gene - OMIM - HGNC]
  • INO80D:INO80 complex subunit D [Gene - OMIM - HGNC]
  • KANSL1L:KAT8 regulatory NSL complex subunit 1 like [Gene - OMIM - HGNC]
  • KLF7:KLF transcription factor 7 [Gene - OMIM - HGNC]
  • LANCL1:LanC like glutathione S-transferase 1 [Gene - OMIM - HGNC]
  • NDUFS1:NADH:ubiquinone oxidoreductase core subunit S1 [Gene - OMIM - HGNC]
  • PNKD:PNKD metallo-beta-lactamase domain containing [Gene - OMIM - HGNC]
  • RUFY4:RUN and FYVE domain containing 4 [Gene - HGNC]
  • SMARCAL1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 [Gene - OMIM - HGNC]
  • XRCC5:X-ray repair cross complementing 5 [Gene - OMIM - HGNC]
  • ARPC2:actin related protein 2/3 complex subunit 2 [Gene - OMIM - HGNC]
  • ACADL:acyl-CoA dehydrogenase long chain [Gene - OMIM - HGNC]
  • AAMP:angio associated migratory cell protein [Gene - OMIM - HGNC]
  • CREB1:cAMP responsive element binding protein 1 [Gene - OMIM - HGNC]
  • CPS1:carbamoyl-phosphate synthase 1 [Gene - OMIM - HGNC]
  • CPO:carboxypeptidase O [Gene - OMIM - HGNC]
  • CMKLR2:chemerin chemokine-like receptor 2 [Gene - OMIM - HGNC]
  • C2orf80:chromosome 2 open reading frame 80 [Gene - OMIM - HGNC]
  • CRYGA:crystallin gamma A [Gene - OMIM - HGNC]
  • CRYGB:crystallin gamma B [Gene - OMIM - HGNC]
  • CRYGC:crystallin gamma C [Gene - OMIM - HGNC]
  • CRYGD:crystallin gamma D [Gene - OMIM - HGNC]
  • CCNYL1:cyclin Y like 1 [Gene - HGNC]
  • DIRC3:disrupted in renal carcinoma 3 [Gene - OMIM - HGNC]
  • DYTN:dystrotelin [Gene - OMIM - HGNC]
  • ERBB4:erb-b2 receptor tyrosine kinase 4 [Gene - OMIM - HGNC]
  • EEF1B2:eukaryotic translation elongation factor 1 beta 2 [Gene - OMIM - HGNC]
  • FN1:fibronectin 1 [Gene - OMIM - HGNC]
  • FZD5:frizzled class receptor 5 [Gene - OMIM - HGNC]
  • IGFBP2:insulin like growth factor binding protein 2 [Gene - OMIM - HGNC]
  • IGFBP5:insulin like growth factor binding protein 5 [Gene - OMIM - HGNC]
  • IDH1:isocitrate dehydrogenase (NADP(+)) 1 [Gene - OMIM - HGNC]
  • MDH1B:malate dehydrogenase 1B [Gene - HGNC]
  • MREG:melanoregulin [Gene - OMIM - HGNC]
  • MARCHF4:membrane associated ring-CH-type finger 4 [Gene - OMIM - HGNC]
  • METTL21A:methyltransferase 21A, HSPA lysine [Gene - OMIM - HGNC]
  • MAP2:microtubule associated protein 2 [Gene - OMIM - HGNC]
  • MYL1:myosin light chain 1 [Gene - OMIM - HGNC]
  • NRP2:neuropilin 2 [Gene - OMIM - HGNC]
  • PARD3B:par-3 family cell polarity regulator beta [Gene - OMIM - HGNC]
  • PTH2R:parathyroid hormone 2 receptor [Gene - OMIM - HGNC]
  • PECR:peroxisomal trans-2-enoyl-CoA reductase [Gene - OMIM - HGNC]
  • PIKFYVE:phosphoinositide kinase, FYVE-type zinc finger containing [Gene - OMIM - HGNC]
  • PLEKHM3:pleckstrin homology domain containing M3 [Gene - OMIM - HGNC]
  • RPL37A:ribosomal protein L37a [Gene - OMIM - HGNC]
  • RPE:ribulose-5-phosphate-3-epimerase [Gene - OMIM - HGNC]
  • SPAG16:sperm associated antigen 16 [Gene - OMIM - HGNC]
  • TNS1:tensin 1 [Gene - OMIM - HGNC]
  • TNP1:transition protein 1 [Gene - OMIM - HGNC]
  • TMBIM1:transmembrane BAX inhibitor motif containing 1 [Gene - OMIM - HGNC]
  • TMEM169:transmembrane protein 169 [Gene - HGNC]
  • UNC80:unc-80 homolog, NALCN channel complex subunit [Gene - OMIM - HGNC]
  • VWC2L:von Willebrand factor C domain containing 2 like [Gene - OMIM - HGNC]
  • ZDBF2:zinc finger DBF-type containing 2 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
2q33.3-35
Genomic location:
Chr2: 205169148 - 219149293 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000809673Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    Pathogenic
    (Sep 11, 2017)
    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, SCV000809673.1

    #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: Oct 14, 2023