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GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 5, 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:
RCV001006505.1

Allele description [Variation Report for GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3]

GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3

Genes:
  • ATP5F1B:ATP synthase F1 subunit beta [Gene - OMIM - HGNC]
  • ATP23:ATP23 metallopeptidase and ATP synthase assembly factor homolog [Gene - OMIM - HGNC]
  • AGAP2:ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 [Gene - OMIM - HGNC]
  • CD63:CD63 molecule [Gene - OMIM - HGNC]
  • CTDSP2:CTD small phosphatase 2 [Gene - OMIM - HGNC]
  • DDIT3:DNA damage inducible transcript 3 [Gene - OMIM - HGNC]
  • PRIM1:DNA primase subunit 1 [Gene - OMIM - HGNC]
  • DNAJC14:DnaJ heat shock protein family (Hsp40) member C14 [Gene - OMIM - HGNC]
  • EEF1AKMT3:EEF1A lysine methyltransferase 3 [Gene - OMIM - HGNC]
  • GPR182:G protein-coupled receptor 182 [Gene - OMIM - HGNC]
  • GLI1:GLI family zinc finger 1 [Gene - OMIM - HGNC]
  • IKZF4:IKAROS family zinc finger 4 [Gene - OMIM - HGNC]
  • LRP1:LDL receptor related protein 1 [Gene - OMIM - HGNC]
  • NDUFA4L2:NDUFA4 mitochondrial complex associated like 2 [Gene - HGNC]
  • NAB2:NGFI-A binding protein 2 [Gene - OMIM - HGNC]
  • ORMDL2:ORMDL sphingolipid biosynthesis regulator 2 [Gene - OMIM - HGNC]
  • OS9:OS9 endoplasmic reticulum lectin [Gene - OMIM - HGNC]
  • PYM1:PYM homolog 1, exon junction complex associated factor [Gene - OMIM - HGNC]
  • R3HDM2:R3H domain containing 2 [Gene - OMIM - HGNC]
  • RAB5B:RAB5B, member RAS oncogene family [Gene - OMIM - HGNC]
  • RBMS2:RNA binding motif single stranded interacting protein 2 [Gene - OMIM - HGNC]
  • ARHGAP9:Rho GTPase activating protein 9 [Gene - OMIM - HGNC]
  • ARHGEF25:Rho guanine nucleotide exchange factor 25 [Gene - OMIM - HGNC]
  • SARNP:SAP domain containing ribonucleoprotein [Gene - OMIM - HGNC]
  • STAC3:SH3 and cysteine rich domain 3 [Gene - OMIM - HGNC]
  • SPRYD4:SPRY domain containing 4 [Gene - HGNC]
  • SMARCC2:SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 [Gene - OMIM - HGNC]
  • TAFA2:TAFA chemokine like family member 2 [Gene - OMIM - HGNC]
  • TSFM:Ts translation elongation factor, mitochondrial [Gene - OMIM - HGNC]
  • AVIL:advillin [Gene - OMIM - HGNC]
  • ANKRD52:ankyrin repeat domain 52 [Gene - HGNC]
  • APOF:apolipoprotein F [Gene - OMIM - HGNC]
  • B4GALNT1:beta-1,4-N-acetyl-galactosaminyltransferase 1 [Gene - OMIM - HGNC]
  • BLOC1S1:biogenesis of lysosomal organelles complex 1 subunit 1 [Gene - OMIM - HGNC]
  • BAZ2A:bromodomain adjacent to zinc finger domain 2A [Gene - OMIM - HGNC]
  • CNPY2:canopy FGF signaling regulator 2 [Gene - OMIM - HGNC]
  • CS:citrate synthase [Gene - OMIM - HGNC]
  • COQ10A:coenzyme Q10A [Gene - HGNC]
  • CDK2:cyclin dependent kinase 2 [Gene - OMIM - HGNC]
  • CDK4:cyclin dependent kinase 4 [Gene - OMIM - HGNC]
  • CYP27B1:cytochrome P450 family 27 subfamily B member 1 [Gene - OMIM - HGNC]
  • DTX3:deltex E3 ubiquitin ligase 3 [Gene - OMIM - HGNC]
  • DGKA:diacylglycerol kinase alpha [Gene - OMIM - HGNC]
  • DCTN2:dynactin subunit 2 [Gene - OMIM - HGNC]
  • ERBB3:erb-b2 receptor tyrosine kinase 3 [Gene - OMIM - HGNC]
  • ESYT1:extended synaptotagmin 1 [Gene - OMIM - HGNC]
  • GLS2:glutaminase 2 [Gene - OMIM - HGNC]
  • GDF11:growth differentiation factor 11 [Gene - OMIM - HGNC]
  • HSD17B6:hydroxysteroid 17-beta dehydrogenase 6 [Gene - OMIM - HGNC]
  • INHBC:inhibin subunit beta C [Gene - OMIM - HGNC]
  • INHBE:inhibin subunit beta E [Gene - OMIM - HGNC]
  • ITGA7:integrin subunit alpha 7 [Gene - OMIM - HGNC]
  • IL23A:interleukin 23 subunit alpha [Gene - OMIM - HGNC]
  • KIF5A:kinesin family member 5A [Gene - OMIM - HGNC]
  • LRIG3:leucine rich repeats and immunoglobulin like domains 3 [Gene - OMIM - HGNC]
  • MIP:major intrinsic protein of lens fiber [Gene - OMIM - HGNC]
  • MMP19:matrix metallopeptidase 19 [Gene - OMIM - HGNC]
  • MARCHF9:membrane associated ring-CH-type finger 9 [Gene - OMIM - HGNC]
  • MARS1:methionyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • MBD6:methyl-CpG binding domain protein 6 [Gene - OMIM - HGNC]
  • METTL1:methyltransferase 1, tRNA methylguanosine [Gene - OMIM - HGNC]
  • MIR26A2:microRNA 26a-2 [Gene - OMIM - HGNC]
  • MIR616:microRNA 616 [Gene - OMIM - HGNC]
  • MYO1A:myosin IA [Gene - OMIM - HGNC]
  • MYL6:myosin light chain 6 [Gene - OMIM - HGNC]
  • MYL6B:myosin light chain 6B [Gene - OMIM - HGNC]
  • NACA:nascent polypeptide associated complex subunit alpha [Gene - OMIM - HGNC]
  • NXPH4:neurexophilin 4 [Gene - OMIM - HGNC]
  • NEMP1:nuclear envelope integral membrane protein 1 [Gene - OMIM - HGNC]
  • NABP2:nucleic acid binding protein 2 [Gene - OMIM - HGNC]
  • OR10A7:olfactory receptor family 10 subfamily A member 7 [Gene - HGNC]
  • OR10P1:olfactory receptor family 10 subfamily P member 1 [Gene - HGNC]
  • OR2AP1:olfactory receptor family 2 subfamily AP member 1 [Gene - HGNC]
  • OR6C1:olfactory receptor family 6 subfamily C member 1 [Gene - HGNC]
  • OR6C2:olfactory receptor family 6 subfamily C member 2 [Gene - HGNC]
  • OR6C3:olfactory receptor family 6 subfamily C member 3 [Gene - HGNC]
  • OR6C4:olfactory receptor family 6 subfamily C member 4 [Gene - HGNC]
  • OR6C65:olfactory receptor family 6 subfamily C member 65 [Gene - HGNC]
  • OR6C68:olfactory receptor family 6 subfamily C member 68 [Gene - HGNC]
  • OR6C6:olfactory receptor family 6 subfamily C member 6 [Gene - HGNC]
  • OR6C70:olfactory receptor family 6 subfamily C member 70 [Gene - HGNC]
  • OR6C74:olfactory receptor family 6 subfamily C member 74 [Gene - HGNC]
  • OR6C75:olfactory receptor family 6 subfamily C member 75 [Gene - HGNC]
  • OR6C76:olfactory receptor family 6 subfamily C member 76 [Gene - HGNC]
  • PIP4K2C:phosphatidylinositol-5-phosphate 4-kinase type 2 gamma [Gene - OMIM - HGNC]
  • PAN2:poly(A) specific ribonuclease subunit PAN2 [Gene - OMIM - HGNC]
  • PMEL:premelanosome protein [Gene - OMIM - HGNC]
  • PA2G4:proliferation-associated 2G4 [Gene - OMIM - HGNC]
  • PTGES3:prostaglandin E synthase 3 [Gene - OMIM - HGNC]
  • RDH16:retinol dehydrogenase 16 [Gene - OMIM - HGNC]
  • RDH5:retinol dehydrogenase 5 [Gene - OMIM - HGNC]
  • RPL41:ribosomal protein L41 [Gene - OMIM - HGNC]
  • RPS26:ribosomal protein S26 [Gene - OMIM - HGNC]
  • RNF41:ring finger protein 41 [Gene - OMIM - HGNC]
  • SHMT2:serine hydroxymethyltransferase 2 [Gene - OMIM - HGNC]
  • SDR9C7:short chain dehydrogenase/reductase family 9C member 7 [Gene - OMIM - HGNC]
  • STAT2:signal transducer and activator of transcription 2 [Gene - OMIM - HGNC]
  • STAT6:signal transducer and activator of transcription 6 [Gene - OMIM - HGNC]
  • SLC16A7:solute carrier family 16 member 7 [Gene - OMIM - HGNC]
  • SLC39A5:solute carrier family 39 member 5 [Gene - OMIM - HGNC]
  • SUOX:sulfite oxidase [Gene - OMIM - HGNC]
  • TAC3:tachykinin precursor 3 [Gene - OMIM - HGNC]
  • TSPAN31:tetraspanin 31 [Gene - OMIM - HGNC]
  • TMT1B:thiol methyltransferase 1B [Gene - HGNC]
  • TIMELESS:timeless circadian regulator [Gene - OMIM - HGNC]
  • ZC3H10:zinc finger CCCH-type containing 10 [Gene - HGNC]
  • ZBTB39:zinc finger and BTB domain containing 39 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
12q13.2-14.1
Genomic location:
Chr12: 55552371 - 62126304 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV001166063Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    		Pathogenic
    (Jun 5, 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, SCV001166063.1

    #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: Mar 26, 2023