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GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 5, 2020
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:
RCV001259370.1

Allele description [Variation Report for GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3]

GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3

Genes:
  • PGLS:6-phosphogluconolactonase [Gene - OMIM - HGNC]
  • AKAP8L:A-kinase anchoring protein 8 like [Gene - OMIM - HGNC]
  • AKAP8:A-kinase anchoring protein 8 [Gene - OMIM - HGNC]
  • ATP13A1:ATPase 13A1 [Gene - OMIM - HGNC]
  • BORCS8:BLOC-1 related complex subunit 8 [Gene - OMIM - HGNC]
  • BABAM1:BRISC and BRCA1 A complex member 1 [Gene - OMIM - HGNC]
  • CLEC17A:C-type lectin domain containing 17A [Gene - OMIM - HGNC]
  • CPAMD8:C3 and PZP like alpha-2-macroglobulin domain containing 8 [Gene - OMIM - HGNC]
  • COPE:COPI coat complex subunit epsilon [Gene - OMIM - HGNC]
  • CRTC1:CREB regulated transcription coactivator 1 [Gene - OMIM - HGNC]
  • DDX49:DEAD-box helicase 49 [Gene - HGNC]
  • DDA1:DET1 and DDB1 associated 1 [Gene - HGNC]
  • DDX39A:DExD-box helicase 39A [Gene - OMIM - HGNC]
  • DNAJB1:DnaJ heat shock protein family (Hsp40) member B1 [Gene - OMIM - HGNC]
  • F2RL3:F2R like thrombin or trypsin receptor 3 [Gene - OMIM - HGNC]
  • FCHO1:FCH and mu domain containing endocytic adaptor 1 [Gene - OMIM - HGNC]
  • FKBP8:FKBP prolyl isomerase 8 [Gene - OMIM - HGNC]
  • GATAD2A:GATA zinc finger domain containing 2A [Gene - OMIM - HGNC]
  • GMIP:GEM interacting protein [Gene - OMIM - HGNC]
  • GIPC1:GIPC PDZ domain containing family member 1 [Gene - OMIM - HGNC]
  • GTPBP3:GTP binding protein 3, mitochondrial [Gene - OMIM - HGNC]
  • HAUS8:HAUS augmin like complex subunit 8 [Gene - OMIM - HGNC]
  • IFI30:IFI30 lysosomal thiol reductase [Gene - OMIM - HGNC]
  • IQCN:IQ motif containing N [Gene - OMIM - HGNC]
  • JAK3:Janus kinase 3 [Gene - OMIM - HGNC]
  • JUND:JunD proto-oncogene, AP-1 transcription factor subunit [Gene - OMIM - HGNC]
  • KLF2:KLF transcription factor 2 [Gene - OMIM - HGNC]
  • KXD1:KxDL motif containing 1 [Gene - OMIM - HGNC]
  • LSM4:LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated [Gene - OMIM - HGNC]
  • MAU2:MAU2 sister chromatid cohesion factor [Gene - OMIM - HGNC]
  • MPV17L2:MPV17 mitochondrial inner membrane protein like 2 [Gene - OMIM - HGNC]
  • NWD1:NACHT and WD repeat domain containing 1 [Gene - OMIM - HGNC]
  • NDUFA13:NADH:ubiquinone oxidoreductase subunit A13 [Gene - OMIM - HGNC]
  • NDUFB7:NADH:ubiquinone oxidoreductase subunit B7 [Gene - OMIM - HGNC]
  • PBX4:PBX homeobox 4 [Gene - OMIM - HGNC]
  • PGLS-DT:PGLS divergent transcript [Gene - HGNC]
  • RAB3A:RAB3A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB8A:RAB8A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RASAL3:RAS protein activator like 3 [Gene - OMIM - HGNC]
  • SIN3B:SIN3 transcription regulator family member B [Gene - OMIM - HGNC]
  • SUGP1:SURP and G-patch domain containing 1 [Gene - OMIM - HGNC]
  • SUGP2:SURP and G-patch domain containing 2 [Gene - OMIM - HGNC]
  • B3GNT3:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 [Gene - OMIM - HGNC]
  • UPF1:UPF1 RNA helicase and ATPase [Gene - OMIM - HGNC]
  • USHBP1:USH1 protein network component harmonin binding protein 1 [Gene - OMIM - HGNC]
  • WIZ:WIZ zinc finger [Gene - OMIM - HGNC]
  • YJEFN3:YjeF N-terminal domain containing 3 [Gene - OMIM - HGNC]
  • ABHD8:abhydrolase domain containing 8 [Gene - HGNC]
  • AP1M1:adaptor related protein complex 1 subunit mu 1 [Gene - OMIM - HGNC]
  • ADGRE2:adhesion G protein-coupled receptor E2 [Gene - OMIM - HGNC]
  • ADGRE3:adhesion G protein-coupled receptor E3 [Gene - OMIM - HGNC]
  • ADGRE5:adhesion G protein-coupled receptor E5 [Gene - OMIM - HGNC]
  • ADGRL1:adhesion G protein-coupled receptor L1 [Gene - OMIM - HGNC]
  • ANKLE1:ankyrin repeat and LEM domain containing 1 [Gene - OMIM - HGNC]
  • ANO8:anoctamin 8 [Gene - OMIM - HGNC]
  • ARMC6:armadillo repeat containing 6 [Gene - HGNC]
  • ARRDC2:arrestin domain containing 2 [Gene - HGNC]
  • BST2:bone marrow stromal cell antigen 2 [Gene - OMIM - HGNC]
  • BRD4:bromodomain containing 4 [Gene - OMIM - HGNC]
  • CIB3:calcium and integrin binding family member 3 [Gene - OMIM - HGNC]
  • CHERP:calcium homeostasis endoplasmic reticulum protein [Gene - OMIM - HGNC]
  • CALR3:calreticulin 3 [Gene - OMIM - HGNC]
  • CILP2:cartilage intermediate layer protein 2 [Gene - OMIM - HGNC]
  • COMP:cartilage oligomeric matrix protein [Gene - OMIM - HGNC]
  • CASP14:caspase 14 [Gene - OMIM - HGNC]
  • CERS1:ceramide synthase 1 [Gene - OMIM - HGNC]
  • C19orf44:chromosome 19 open reading frame 44 [Gene - HGNC]
  • CCDC105:coiled-coil domain containing 105 [Gene - HGNC]
  • CCDC124:coiled-coil domain containing 124 [Gene - HGNC]
  • COLGALT1:collagen beta(1-O)galactosyltransferase 1 [Gene - OMIM - HGNC]
  • CYP4F11:cytochrome P450 family 4 subfamily F member 11 [Gene - OMIM - HGNC]
  • CYP4F12:cytochrome P450 family 4 subfamily F member 12 [Gene - OMIM - HGNC]
  • CYP4F22:cytochrome P450 family 4 subfamily F member 22 [Gene - OMIM - HGNC]
  • CYP4F2:cytochrome P450 family 4 subfamily F member 2 [Gene - OMIM - HGNC]
  • CYP4F3:cytochrome P450 family 4 subfamily F member 3 [Gene - OMIM - HGNC]
  • CYP4F8:cytochrome P450 family 4 subfamily F member 8 [Gene - OMIM - HGNC]
  • CRLF1:cytokine receptor like factor 1 [Gene - OMIM - HGNC]
  • ELL:elongation factor for RNA polymerase II [Gene - OMIM - HGNC]
  • EPS15L1:epidermal growth factor receptor pathway substrate 15 like 1 [Gene - OMIM - HGNC]
  • EPHX3:epoxide hydrolase 3 [Gene - OMIM - HGNC]
  • FAM32A:family with sequence similarity 32 member A [Gene - OMIM - HGNC]
  • GDF15:growth differentiation factor 15 [Gene - OMIM - HGNC]
  • GDF1:growth differentiation factor 1 [Gene - OMIM - HGNC]
  • HSH2D:hematopoietic SH2 domain containing [Gene - OMIM - HGNC]
  • HOMER3:homer scaffold protein 3 [Gene - OMIM - HGNC]
  • HAPLN4:hyaluronan and proteoglycan link protein 4 [Gene - OMIM - HGNC]
  • ILVBL:ilvB acetolactate synthase like [Gene - OMIM - HGNC]
  • ISYNA1:inositol-3-phosphate synthase 1 [Gene - OMIM - HGNC]
  • INSL3:insulin like 3 [Gene - OMIM - HGNC]
  • IL12RB1:interleukin 12 receptor subunit beta 1 [Gene - OMIM - HGNC]
  • KLHL26:kelch like family member 26 [Gene - HGNC]
  • LRRC25:leucine rich repeat containing 25 [Gene - OMIM - HGNC]
  • LPAR2:lysophosphatidic acid receptor 2 [Gene - OMIM - HGNC]
  • MED26:mediator complex subunit 26 [Gene - OMIM - HGNC]
  • MAP1S:microtubule associated protein 1S [Gene - OMIM - HGNC]
  • MAST3:microtubule associated serine/threonine kinase 3 [Gene - OMIM - HGNC]
  • MRPL34:mitochondrial ribosomal protein L34 [Gene - OMIM - HGNC]
  • MVB12A:multivesicular body subunit 12A [Gene - HGNC]
  • MEF2B:myocyte enhancer factor 2B [Gene - OMIM - HGNC]
  • MYO9B:myosin IXB [Gene - OMIM - HGNC]
  • NCAN:neurocan [Gene - OMIM - HGNC]
  • NIBAN3:niban apoptosis regulator 3 [Gene - OMIM - HGNC]
  • NOTCH3:notch receptor 3 [Gene - OMIM - HGNC]
  • NR2C2AP:nuclear receptor 2C2 associated protein [Gene - OMIM - HGNC]
  • NR2F6:nuclear receptor subfamily 2 group F member 6 [Gene - OMIM - HGNC]
  • NXNL1:nucleoredoxin like 1 [Gene - OMIM - HGNC]
  • OCEL1:occludin/ELL domain containing 1 [Gene - HGNC]
  • OR1I1:olfactory receptor family 1 subfamily I member 1 [Gene - HGNC]
  • OR10H1:olfactory receptor family 10 subfamily H member 1 [Gene - HGNC]
  • OR10H2:olfactory receptor family 10 subfamily H member 2 [Gene - HGNC]
  • OR10H3:olfactory receptor family 10 subfamily H member 3 [Gene - HGNC]
  • OR10H4:olfactory receptor family 10 subfamily H member 4 [Gene - HGNC]
  • OR10H5:olfactory receptor family 10 subfamily H member 5 [Gene - HGNC]
  • OR7A10:olfactory receptor family 7 subfamily A member 10 [Gene - HGNC]
  • OR7A17:olfactory receptor family 7 subfamily A member 17 [Gene - HGNC]
  • OR7A5:olfactory receptor family 7 subfamily A member 5 [Gene - HGNC]
  • OR7C1:olfactory receptor family 7 subfamily C member 1 [Gene - HGNC]
  • OR7C2:olfactory receptor family 7 subfamily C member 2 [Gene - HGNC]
  • PGLYRP2:peptidoglycan recognition protein 2 [Gene - OMIM - HGNC]
  • PDE4C:phosphodiesterase 4C [Gene - OMIM - HGNC]
  • PIK3R2:phosphoinositide-3-kinase regulatory subunit 2 [Gene - OMIM - HGNC]
  • PLVAP:plasmalemma vesicle associated protein [Gene - OMIM - HGNC]
  • KCNN1:potassium calcium-activated channel subfamily N member 1 [Gene - OMIM - HGNC]
  • PTGER1:prostaglandin E receptor 1 [Gene - OMIM - HGNC]
  • PKN1:protein kinase N1 [Gene - OMIM - HGNC]
  • PGPEP1:pyroglutamyl-peptidase I [Gene - OMIM - HGNC]
  • RFXANK:regulatory factor X associated ankyrin containing protein [Gene - OMIM - HGNC]
  • REX1BD:required for excision 1-B domain containing [Gene - HGNC]
  • RPL18A:ribosomal protein L18a [Gene - OMIM - HGNC]
  • SSBP4:single stranded DNA binding protein 4 [Gene - OMIM - HGNC]
  • SMIM7:small integral membrane protein 7 [Gene - HGNC]
  • SLC1A6:solute carrier family 1 member 6 [Gene - OMIM - HGNC]
  • SLC25A42:solute carrier family 25 member 42 [Gene - OMIM - HGNC]
  • SLC27A1:solute carrier family 27 member 1 [Gene - OMIM - HGNC]
  • SLC35E1:solute carrier family 35 member E1 [Gene - HGNC]
  • SLC5A5:solute carrier family 5 member 5 [Gene - OMIM - HGNC]
  • SYDE1:synapse defective Rho GTPase homolog 1 [Gene - OMIM - HGNC]
  • TSSK6:testis specific serine kinase 6 [Gene - OMIM - HGNC]
  • TECR:trans-2,3-enoyl-CoA reductase [Gene - OMIM - HGNC]
  • TM6SF2:transmembrane 6 superfamily member 2 [Gene - OMIM - HGNC]
  • TMEM161A:transmembrane protein 161A [Gene - OMIM - HGNC]
  • TMEM221:transmembrane protein 221 [Gene - HGNC]
  • TMEM38A:transmembrane protein 38A [Gene - OMIM - HGNC]
  • TMEM59L:transmembrane protein 59 like [Gene - OMIM - HGNC]
  • TPM4:tropomyosin 4 [Gene - OMIM - HGNC]
  • UBA52:ubiquitin A-52 residue ribosomal protein fusion product 1 [Gene - OMIM - HGNC]
  • UNC13A:unc-13 homolog A [Gene - OMIM - HGNC]
  • USE1:unconventional SNARE in the ER 1 [Gene - OMIM - HGNC]
  • UCA1:urothelial cancer associated 1 [Gene - OMIM - HGNC]
  • ZNF101:zinc finger protein 101 [Gene - OMIM - HGNC]
  • ZNF14:zinc finger protein 14 [Gene - OMIM - HGNC]
  • ZNF253:zinc finger protein 253 [Gene - OMIM - HGNC]
  • ZNF333:zinc finger protein 333 [Gene - OMIM - HGNC]
  • ZNF486:zinc finger protein 486 [Gene - HGNC]
  • ZNF506:zinc finger protein 506 [Gene - HGNC]
  • ZNF626:zinc finger protein 626 [Gene - HGNC]
  • ZNF682:zinc finger protein 682 [Gene - HGNC]
  • ZNF737:zinc finger protein 737 [Gene - OMIM - HGNC]
  • ZNF90:zinc finger protein 90 [Gene - OMIM - HGNC]
  • ZNF93:zinc finger protein 93 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
19p13.12-12
Genomic location:
Chr19: 14286624 - 20956753 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)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
    SCV001436339Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    		Pathogenic
    (Feb 5, 2020)     		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, SCV001436339.1

    #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