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GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 20, 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:
RCV000682249.1

Allele description [Variation Report for GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3]

GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3

Genes:
  • OXSM:3-oxoacyl-ACP synthase, mitochondrial [Gene - OMIM - HGNC]
  • AZI2:5-azacytidine induced 2 [Gene - OMIM - HGNC]
  • APRG1:APRG1 tumor suppressor candidate [Gene - OMIM - HGNC]
  • CCR4:C-C motif chemokine receptor 4 [Gene - OMIM - HGNC]
  • CCR8:C-C motif chemokine receptor 8 [Gene - OMIM - HGNC]
  • CX3CR1:C-X3-C motif chemokine receptor 1 [Gene - OMIM - HGNC]
  • CMC1:C-X9-C motif containing 1 [Gene - OMIM - HGNC]
  • CLEC3B:C-type lectin domain family 3 member B [Gene - OMIM - HGNC]
  • CNOT10:CCR4-NOT transcription complex subunit 10 [Gene - HGNC]
  • CMTM6:CKLF like MARVEL transmembrane domain containing 6 [Gene - OMIM - HGNC]
  • CMTM7:CKLF like MARVEL transmembrane domain containing 7 [Gene - OMIM - HGNC]
  • CMTM8:CKLF like MARVEL transmembrane domain containing 8 [Gene - OMIM - HGNC]
  • CTDSPL:CTD small phosphatase like [Gene - OMIM - HGNC]
  • CDCP1:CUB domain containing protein 1 [Gene - OMIM - HGNC]
  • DLEC1:DLEC1 cilia and flagella associated protein [Gene - OMIM - HGNC]
  • TOP2B:DNA topoisomerase II beta [Gene - OMIM - HGNC]
  • EFHB:EF-hand domain family member B [Gene - HGNC]
  • EPM2AIP1:EPM2A interacting protein 1 [Gene - OMIM - HGNC]
  • FBXL2:F-box and leucine rich repeat protein 2 [Gene - OMIM - HGNC]
  • HIGD1A:HIG1 hypoxia inducible domain family member 1A [Gene - OMIM - HGNC]
  • KIAA1143:KIAA1143 [Gene - HGNC]
  • KRBOX1:KRAB box domain containing 1 [Gene - HGNC]
  • KRBOX1-AS1:KRBOX1 antisense RNA 1 [Gene - HGNC]
  • LRRFIP2:LRR binding FLII interacting protein 2 [Gene - OMIM - HGNC]
  • MYD88:MYD88 innate immune signal transduction adaptor [Gene - OMIM - HGNC]
  • NGLY1:N-glycanase 1 [Gene - OMIM - HGNC]
  • NKIRAS1:NFKB inhibitor interacting Ras like 1 [Gene - OMIM - HGNC]
  • NEK10:NIMA related kinase 10 [Gene - OMIM - HGNC]
  • RAB5A:RAB5A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RBMS3:RNA binding motif single stranded interacting protein 3 [Gene - OMIM - HGNC]
  • SATB1:SATB homeobox 1 [Gene - OMIM - HGNC]
  • SEC22C:SEC22 homolog C, vesicle trafficking protein [Gene - OMIM - HGNC]
  • STAC:SH3 and cysteine rich domain [Gene - OMIM - HGNC]
  • SNRK:SNF related kinase [Gene - OMIM - HGNC]
  • SS18L2:SS18 like 2 [Gene - OMIM - HGNC]
  • STT3B:STT3 oligosaccharyltransferase complex catalytic subunit B [Gene - OMIM - HGNC]
  • TCAIM:T cell activation inhibitor, mitochondrial [Gene - HGNC]
  • TBC1D5:TBC1 domain family member 5 [Gene - OMIM - HGNC]
  • WDR48:WD repeat domain 48 [Gene - OMIM - HGNC]
  • ABHD5:abhydrolase domain containing 5, lysophosphatidic acid acyltransferase [Gene - OMIM - HGNC]
  • ACAA1:acetyl-CoA acyltransferase 1 [Gene - OMIM - HGNC]
  • ACVR2B:activin A receptor type 2B [Gene - OMIM - HGNC]
  • ANO10:anoctamin 10 [Gene - OMIM - HGNC]
  • ACKR2:atypical chemokine receptor 2 [Gene - OMIM - HGNC]
  • ARPP21:cAMP regulated phosphoprotein 21 [Gene - OMIM - HGNC]
  • CRTAP:cartilage associated protein [Gene - OMIM - HGNC]
  • CTNNB1:catenin beta 1 [Gene - OMIM - HGNC]
  • CCK:cholecystokinin [Gene - OMIM - HGNC]
  • CCDC13:coiled-coil domain containing 13 [Gene - HGNC]
  • CSRNP1:cysteine and serine rich nuclear protein 1 [Gene - OMIM - HGNC]
  • CYP8B1:cytochrome P450 family 8 subfamily B member 1 [Gene - OMIM - HGNC]
  • CLASP2:cytoplasmic linker associated protein 2 [Gene - OMIM - HGNC]
  • DCLK3:doublecortin like kinase 3 [Gene - OMIM - HGNC]
  • DYNC1LI1:dynein cytoplasmic 1 light intermediate chain 1 [Gene - OMIM - HGNC]
  • ENTPD3:ectonucleoside triphosphate diphosphohydrolase 3 [Gene - OMIM - HGNC]
  • EOMES:eomesodermin [Gene - OMIM - HGNC]
  • EIF1B:eukaryotic translation initiation factor 1B [Gene - HGNC]
  • EXOG:exo/endonuclease G [Gene - OMIM - HGNC]
  • EXOSC7:exosome component 7 [Gene - OMIM - HGNC]
  • GLB1:galactosidase beta 1 [Gene - OMIM - HGNC]
  • GADL1:glutamate decarboxylase like 1 [Gene - OMIM - HGNC]
  • GPD1L:glycerol-3-phosphate dehydrogenase 1 like [Gene - OMIM - HGNC]
  • GASK1A:golgi associated kinase 1A [Gene - HGNC]
  • GORASP1:golgi reassembly stacking protein 1 [Gene - OMIM - HGNC]
  • GOLGA4:golgin A4 [Gene - OMIM - HGNC]
  • HHATL:hedgehog acyltransferase like [Gene - OMIM - HGNC]
  • ITGA9:integrin subunit alpha 9 [Gene - OMIM - HGNC]
  • KLHL40:kelch like family member 40 [Gene - OMIM - HGNC]
  • KIF15:kinesin family member 15 [Gene - OMIM - HGNC]
  • LRRC3B:leucine rich repeat containing 3B [Gene - OMIM - HGNC]
  • KAT2B:lysine acetyltransferase 2B [Gene - OMIM - HGNC]
  • LYZL4:lysozyme like 4 [Gene - OMIM - HGNC]
  • MIR128-2:microRNA 128-2 [Gene - OMIM - HGNC]
  • MIR138-1:microRNA 138-1 [Gene - OMIM - HGNC]
  • MIR26A1:microRNA 26a-1 [Gene - OMIM - HGNC]
  • MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
  • MOBP:myelin associated oligodendrocyte basic protein [Gene - OMIM - HGNC]
  • MYRIP:myosin VIIA and Rab interacting protein [Gene - OMIM - HGNC]
  • NKTR:natural killer cell triggering receptor [Gene - OMIM - HGNC]
  • NR1D2:nuclear receptor subfamily 1 group D member 2 [Gene - OMIM - HGNC]
  • OXSR1:oxidative stress responsive kinase 1 [Gene - OMIM - HGNC]
  • OSBPL10:oxysterol binding protein like 10 [Gene - OMIM - HGNC]
  • PLCD1:phospholipase C delta 1 [Gene - OMIM - HGNC]
  • PLCL2:phospholipase C like 2 [Gene - OMIM - HGNC]
  • KCNH8:potassium voltage-gated channel subfamily H member 8 [Gene - OMIM - HGNC]
  • PDCD6IP:programmed cell death 6 interacting protein [Gene - OMIM - HGNC]
  • POMGNT2:protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) [Gene - OMIM - HGNC]
  • PP2D1:protein phosphatase 2C like domain containing 1 [Gene - HGNC]
  • RARB:retinoic acid receptor beta [Gene - OMIM - HGNC]
  • RPL14:ribosomal protein L14 [Gene - OMIM - HGNC]
  • RPL15:ribosomal protein L15 [Gene - OMIM - HGNC]
  • RPSA:ribosomal protein SA [Gene - OMIM - HGNC]
  • SGO1:shugoshin 1 [Gene - OMIM - HGNC]
  • SNORA62:small nucleolar RNA, H/ACA box 62 [Gene - OMIM - HGNC]
  • SCN10A:sodium voltage-gated channel alpha subunit 10 [Gene - OMIM - HGNC]
  • SCN11A:sodium voltage-gated channel alpha subunit 11 [Gene - OMIM - HGNC]
  • SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]
  • SLC22A13:solute carrier family 22 member 13 [Gene - OMIM - HGNC]
  • SLC22A14:solute carrier family 22 member 14 [Gene - OMIM - HGNC]
  • SLC25A38:solute carrier family 25 member 38 [Gene - OMIM - HGNC]
  • SLC4A7:solute carrier family 4 member 7 [Gene - OMIM - HGNC]
  • SUSD5:sushi domain containing 5 [Gene - OMIM - HGNC]
  • TOPAZ1:testis and ovary specific TOPAZ 1 [Gene - OMIM - HGNC]
  • TRANK1:tetratricopeptide repeat and ankyrin repeat containing 1 [Gene - OMIM - HGNC]
  • TTC21A:tetratricopeptide repeat domain 21A [Gene - OMIM - HGNC]
  • THRB:thyroid hormone receptor beta [Gene - OMIM - HGNC]
  • TRAK1:trafficking kinesin protein 1 [Gene - OMIM - HGNC]
  • TGFBR2:transforming growth factor beta receptor 2 [Gene - OMIM - HGNC]
  • TGM4:transglutaminase 4 [Gene - OMIM - HGNC]
  • TMEM42:transmembrane protein 42 [Gene - HGNC]
  • TMPPE:transmembrane protein with metallophosphoesterase domain [Gene - HGNC]
  • TRIM71:tripartite motif containing 71 [Gene - OMIM - HGNC]
  • UBE2E1:ubiquitin conjugating enzyme E2 E1 [Gene - OMIM - HGNC]
  • UBE2E2:ubiquitin conjugating enzyme E2 E2 [Gene - OMIM - HGNC]
  • ULK4:unc-51 like kinase 4 [Gene - OMIM - HGNC]
  • UBP1:upstream binding protein 1 [Gene - OMIM - HGNC]
  • VIPR1:vasoactive intestinal peptide receptor 1 [Gene - OMIM - HGNC]
  • VILL:villin like [Gene - OMIM - HGNC]
  • XIRP1:xin actin binding repeat containing 1 [Gene - OMIM - HGNC]
  • XYLB:xylulokinase [Gene - OMIM - HGNC]
  • ZCWPW2:zinc finger CW-type and PWWP domain containing 2 [Gene - HGNC]
  • ZDHHC3:zinc finger DHHC-type palmitoyltransferase 3 [Gene - OMIM - HGNC]
  • ZBTB47:zinc finger and BTB domain containing 47 [Gene - OMIM - HGNC]
  • ZNF197:zinc finger protein 197 [Gene - OMIM - HGNC]
  • ZNF35:zinc finger protein 35 [Gene - OMIM - HGNC]
  • ZNF385D:zinc finger protein 385D [Gene - HGNC]
  • ZNF445:zinc finger protein 445 [Gene - OMIM - HGNC]
  • ZNF501:zinc finger protein 501 [Gene - HGNC]
  • ZNF502:zinc finger protein 502 [Gene - HGNC]
  • ZNF619:zinc finger protein 619 [Gene - HGNC]
  • ZNF620:zinc finger protein 620 [Gene - HGNC]
  • ZNF621:zinc finger protein 621 [Gene - HGNC]
  • ZNF660:zinc finger protein 660 [Gene - HGNC]
  • ZNF662:zinc finger protein 662 [Gene - HGNC]
  • ZNF852:zinc finger protein 852 [Gene - HGNC]
  • ZNF860:zinc finger protein 860 [Gene - HGNC]
  • ZKSCAN7:zinc finger with KRAB and SCAN domains 7 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
3p24.3-21.31
Genomic location:
Chr3: 16923595 - 45249923 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3
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
    SCV000809756Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    Pathogenic
    (Oct 20, 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, SCV000809756.1

    #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