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GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 21, 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:
RCV000846988.2

Allele description [Variation Report for GRCh37/hg19 19p13.3(chr19:260911-4788357)x3]

GRCh37/hg19 19p13.3(chr19:260911-4788357)x3

Genes:
  • ADAMTSL5:ADAMTS like 5 [Gene - HGNC]
  • APC2:APC regulator of WNT signaling pathway 2 [Gene - OMIM - HGNC]
  • ARID3A:AT-rich interaction domain 3A [Gene - OMIM - HGNC]
  • ATCAY:ATCAY kinesin light chain interacting caytaxin [Gene - OMIM - HGNC]
  • ABCA7:ATP binding cassette subfamily A member 7 [Gene - OMIM - HGNC]
  • ATP5F1D:ATP synthase F1 subunit delta [Gene - OMIM - HGNC]
  • ATP8B3:ATPase phospholipid transporting 8B3 [Gene - OMIM - HGNC]
  • BTBD2:BTB domain containing 2 [Gene - OMIM - HGNC]
  • C2CD4C:C2 calcium dependent domain containing 4C [Gene - OMIM - HGNC]
  • CBARP:CACN subunit beta associated regulatory protein [Gene - HGNC]
  • CELF5:CUGBP Elav-like family member 5 [Gene - OMIM - HGNC]
  • DAZAP1:DAZ associated protein 1 [Gene - OMIM - HGNC]
  • DIRAS1:DIRAS family GTPase 1 [Gene - OMIM - HGNC]
  • DOT1L:DOT1 like histone lysine methyltransferase [Gene - OMIM - HGNC]
  • EBI3:Epstein-Barr virus induced 3 [Gene - OMIM - HGNC]
  • GNA11:G protein subunit alpha 11 [Gene - OMIM - HGNC]
  • GNA15:G protein subunit alpha 15 [Gene - OMIM - HGNC]
  • GNG7:G protein subunit gamma 7 [Gene - OMIM - HGNC]
  • GIPC3:GIPC PDZ domain containing family member 3 [Gene - OMIM - HGNC]
  • IZUMO4:IZUMO family member 4 [Gene - OMIM - HGNC]
  • KISS1R:KISS1 receptor [Gene - OMIM - HGNC]
  • KLF16:KLF transcription factor 16 [Gene - OMIM - HGNC]
  • LSM7:LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated [Gene - OMIM - HGNC]
  • MKNK2:MAPK interacting serine/threonine kinase 2 [Gene - OMIM - HGNC]
  • MIER2:MIER family member 2 [Gene - OMIM - HGNC]
  • MOB3A:MOB kinase activator 3A [Gene - HGNC]
  • MPND:MPN domain containing [Gene - HGNC]
  • NDUFS7:NADH:ubiquinone oxidoreductase core subunit S7 [Gene - OMIM - HGNC]
  • PEAK3:PEAK family member 3 [Gene - OMIM - HGNC]
  • PWWP3A:PWWP domain containing 3A, DNA repair factor [Gene - HGNC]
  • R3HDM4:R3H domain containing 4 [Gene - HGNC]
  • REXO1:RNA exonuclease 1 homolog [Gene - OMIM - HGNC]
  • POLR2E:RNA polymerase II, I and III subunit E [Gene - OMIM - HGNC]
  • POLRMT:RNA polymerase mitochondrial [Gene - OMIM - HGNC]
  • ARHGAP45:Rho GTPase activating protein 45 [Gene - OMIM - HGNC]
  • SH3GL1:SH3 domain containing GRB2 like 1, endophilin A2 [Gene - OMIM - HGNC]
  • SHC2:SHC adaptor protein 2 [Gene - OMIM - HGNC]
  • SHD:Src homology 2 domain containing transforming protein D [Gene - OMIM - HGNC]
  • TLE2:TLE family member 2, transcriptional corepressor [Gene - OMIM - HGNC]
  • TLE5:TLE family member 5, transcriptional modulator [Gene - OMIM - HGNC]
  • TLE6:TLE family member 6, subcortical maternal complex member [Gene - OMIM - HGNC]
  • TNFAIP8L1:TNF alpha induced protein 8 like 1 [Gene - OMIM - HGNC]
  • UBXN6:UBX domain protein 6 [Gene - OMIM - HGNC]
  • WDR18:WD repeat domain 18 [Gene - OMIM - HGNC]
  • YJU2:YJU2 splicing factor homolog [Gene - HGNC]
  • ABHD17A:abhydrolase domain containing 17A, depalmitoylase [Gene - OMIM - HGNC]
  • AP3D1:adaptor related protein complex 3 subunit delta 1 [Gene - OMIM - HGNC]
  • ADAT3:adenosine deaminase tRNA specific 3 [Gene - OMIM - HGNC]
  • APBA3:amyloid beta precursor protein binding family A member 3 [Gene - OMIM - HGNC]
  • ANKRD24:ankyrin repeat domain 24 [Gene - OMIM - HGNC]
  • AMH:anti-Mullerian hormone [Gene - OMIM - HGNC]
  • AZU1:azurocidin 1 [Gene - OMIM - HGNC]
  • BSG:basigin (Ok blood group) [Gene - OMIM - HGNC]
  • CREB3L3:cAMP responsive element binding protein 3 like 3 [Gene - OMIM - HGNC]
  • CACTIN:cactin, spliceosome C complex subunit [Gene - OMIM - HGNC]
  • CNN2:calponin 2 [Gene - OMIM - HGNC]
  • CSNK1G2:casein kinase 1 gamma 2 [Gene - OMIM - HGNC]
  • CDC34:cell division cycle 34, ubiqiutin conjugating enzyme [Gene - OMIM - HGNC]
  • CHAF1A:chromatin assembly factor 1 subunit A [Gene - OMIM - HGNC]
  • C19orf25:chromosome 19 open reading frame 25 [Gene - HGNC]
  • CIRBP:cold inducible RNA binding protein [Gene - OMIM - HGNC]
  • CFD:complement factor D [Gene - OMIM - HGNC]
  • DAPK3:death associated protein kinase 3 [Gene - OMIM - HGNC]
  • DOHH:deoxyhypusine hydroxylase [Gene - OMIM - HGNC]
  • DPP9:dipeptidyl peptidase 9 [Gene - OMIM - HGNC]
  • ELANE:elastase, neutrophil expressed [Gene - OMIM - HGNC]
  • EFNA2:ephrin A2 [Gene - OMIM - HGNC]
  • EEF2:eukaryotic translation elongation factor 2 [Gene - OMIM - HGNC]
  • FAM174C:family with sequence similarity 174 member C [Gene - HGNC]
  • FGF22:fibroblast growth factor 22 [Gene - OMIM - HGNC]
  • FSD1:fibronectin type III and SPRY domain containing 1 [Gene - OMIM - HGNC]
  • FZR1:fizzy and cell division cycle 20 related 1 [Gene - OMIM - HGNC]
  • FSTL3:follistatin like 3 [Gene - OMIM - HGNC]
  • GRIN3B:glutamate ionotropic receptor NMDA type subunit 3B [Gene - OMIM - HGNC]
  • GPX4:glutathione peroxidase 4 [Gene - OMIM - HGNC]
  • GZMM:granzyme M [Gene - OMIM - HGNC]
  • GADD45B:growth arrest and DNA damage inducible beta [Gene - OMIM - HGNC]
  • GAMT:guanidinoacetate N-methyltransferase [Gene - OMIM - HGNC]
  • HMG20B:high mobility group 20B [Gene - OMIM - HGNC]
  • HCN2:hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 [Gene - OMIM - HGNC]
  • JSRP1:junctional sarcoplasmic reticulum protein 1 [Gene - OMIM - HGNC]
  • LMNB2:lamin B2 [Gene - OMIM - HGNC]
  • LRG1:leucine rich alpha-2-glycoprotein 1 [Gene - OMIM - HGNC]
  • LINGO3:leucine rich repeat and Ig domain containing 3 [Gene - OMIM - HGNC]
  • MFSD12:major facilitator superfamily domain containing 12 [Gene - OMIM - HGNC]
  • MED16:mediator complex subunit 16 [Gene - OMIM - HGNC]
  • MATK:megakaryocyte-associated tyrosine kinase [Gene - OMIM - HGNC]
  • MBD3:methyl-CpG binding domain protein 3 [Gene - OMIM - HGNC]
  • MEX3D:mex-3 RNA binding family member D [Gene - OMIM - HGNC]
  • MIR1909:microRNA 1909 [Gene - OMIM - HGNC]
  • MIDN:midnolin [Gene - OMIM - HGNC]
  • MRPL54:mitochondrial ribosomal protein L54 [Gene - OMIM - HGNC]
  • MAP2K2:mitogen-activated protein kinase kinase 2 [Gene - OMIM - HGNC]
  • MISP:mitotic spindle positioning [Gene - OMIM - HGNC]
  • MADCAM1:mucosal vascular addressin cell adhesion molecule 1 [Gene - OMIM - HGNC]
  • MYDGF:myeloid derived growth factor [Gene - OMIM - HGNC]
  • NCLN:nicalin [Gene - OMIM - HGNC]
  • NMRK2:nicotinamide riboside kinase 2 [Gene - OMIM - HGNC]
  • NFIC:nuclear factor I C [Gene - OMIM - HGNC]
  • ONECUT3:one cut homeobox 3 [Gene - OMIM - HGNC]
  • OAZ1:ornithine decarboxylase antizyme 1 [Gene - OMIM - HGNC]
  • ODF3L2:outer dense fiber of sperm tails 3 like 2 [Gene - HGNC]
  • PALM:paralemmin [Gene - OMIM - HGNC]
  • PLIN4:perilipin 4 [Gene - OMIM - HGNC]
  • PLIN5:perilipin 5 [Gene - OMIM - HGNC]
  • PIP5K1C:phosphatidylinositol-4-phosphate 5-kinase type 1 gamma [Gene - OMIM - HGNC]
  • PLPP2:phospholipid phosphatase 2 [Gene - OMIM - HGNC]
  • PLPPR3:phospholipid phosphatase related 3 [Gene - OMIM - HGNC]
  • PLEKHJ1:pleckstrin homology domain containing J1 [Gene - OMIM - HGNC]
  • PLK5:polo like kinase 5 (inactive) [Gene - HGNC]
  • PTBP1:polypyrimidine tract binding protein 1 [Gene - OMIM - HGNC]
  • PCSK4:proprotein convertase subtilisin/kexin type 4 [Gene - OMIM - HGNC]
  • PIAS4:protein inhibitor of activated STAT 4 [Gene - OMIM - HGNC]
  • PRTN3:proteinase 3 [Gene - OMIM - HGNC]
  • REEP6:receptor accessory protein 6 [Gene - OMIM - HGNC]
  • RAX2:retina and anterior neural fold homeobox 2 [Gene - OMIM - HGNC]
  • RPS15:ribosomal protein S15 [Gene - OMIM - HGNC]
  • RNF126:ring finger protein 126 [Gene - OMIM - HGNC]
  • SCAMP4:secretory carrier membrane protein 4 [Gene - OMIM - HGNC]
  • SEMA6B:semaphorin 6B [Gene - OMIM - HGNC]
  • PRSS57:serine protease 57 [Gene - HGNC]
  • STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]
  • SPPL2B:signal peptide peptidase like 2B [Gene - OMIM - HGNC]
  • STAP2:signal transducing adaptor family member 2 [Gene - OMIM - HGNC]
  • SIRT6:sirtuin 6 [Gene - OMIM - HGNC]
  • SGTA:small glutamine rich tetratricopeptide repeat co-chaperone alpha [Gene - OMIM - HGNC]
  • SMIM24:small integral membrane protein 24 [Gene - HGNC]
  • SLC39A3:solute carrier family 39 member 3 [Gene - OMIM - HGNC]
  • S1PR4:sphingosine-1-phosphate receptor 4 [Gene - OMIM - HGNC]
  • SF3A2:splicing factor 3a subunit 2 [Gene - OMIM - HGNC]
  • SBNO2:strawberry notch homolog 2 [Gene - OMIM - HGNC]
  • TEKTIP1:tektin bundle interacting protein 1 [Gene - HGNC]
  • THEG:theg spermatid protein [Gene - OMIM - HGNC]
  • THOP1:thimet oligopeptidase 1 [Gene - OMIM - HGNC]
  • TBXA2R:thromboxane A2 receptor [Gene - OMIM - HGNC]
  • TJP3:tight junction protein 3 [Gene - OMIM - HGNC]
  • TCF3:transcription factor 3 [Gene - OMIM - HGNC]
  • TIMM13:translocase of inner mitochondrial membrane 13 [Gene - OMIM - HGNC]
  • TMIGD2:transmembrane and immunoglobulin domain containing 2 [Gene - OMIM - HGNC]
  • TMEM259:transmembrane protein 259 [Gene - OMIM - HGNC]
  • TMPRSS9:transmembrane serine protease 9 [Gene - OMIM - HGNC]
  • TPGS1:tubulin polyglutamylase complex subunit 1 [Gene - HGNC]
  • UQCR11:ubiquinol-cytochrome c reductase, complex III subunit XI [Gene - OMIM - HGNC]
  • ZFR2:zinc finger RNA binding protein 2 [Gene - OMIM - HGNC]
  • ZBTB7A:zinc finger and BTB domain containing 7A [Gene - OMIM - HGNC]
  • ZNF554:zinc finger protein 554 [Gene - HGNC]
  • ZNF555:zinc finger protein 555 [Gene - HGNC]
  • ZNF556:zinc finger protein 556 [Gene - HGNC]
  • ZNF77:zinc finger protein 77 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
19p13.3
Genomic location:
Chr19: 260911 - 4788357 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 19p13.3(chr19:260911-4788357)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
    SCV000989110Bionano Laboratories
    no assertion criteria provided
    Pathogenic
    (May 21, 2018)
    unknownclinical testing

    Summary from all submissions

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

    Details of each submission

    From Bionano Laboratories, SCV000989110.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providedBuccalnot providednot providednot providednot providednot provided

    Last Updated: Mar 26, 2023