U.S. flag

An official website of the United States government

GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 6, 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:
RCV001005487.1

Allele description [Variation Report for GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3]

GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3

Genes:
  • HTR3C:5-hydroxytryptamine receptor 3C [Gene - OMIM - HGNC]
  • HTR3D:5-hydroxytryptamine receptor 3D [Gene - OMIM - HGNC]
  • HTR3E:5-hydroxytryptamine receptor 3E [Gene - OMIM - HGNC]
  • ALG3:ALG3 alpha-1,3- mannosyltransferase [Gene - OMIM - HGNC]
  • ABCC5:ATP binding cassette subfamily C member 5 [Gene - OMIM - HGNC]
  • ABCF3:ATP binding cassette subfamily F member 3 [Gene - OMIM - HGNC]
  • ATP11B:ATPase phospholipid transporting 11B (putative) [Gene - OMIM - HGNC]
  • BCL6:BCL6 transcription repressor [Gene - OMIM - HGNC]
  • DNAJB11:DnaJ heat shock protein family (Hsp40) member B11 [Gene - OMIM - HGNC]
  • DNAJC19:DnaJ heat shock protein family (Hsp40) member C19 [Gene - OMIM - HGNC]
  • EPHB3:EPH receptor B3 [Gene - OMIM - HGNC]
  • ETV5:ETS variant transcription factor 5 [Gene - OMIM - HGNC]
  • FXR1:FMR1 autosomal homolog 1 [Gene - OMIM - HGNC]
  • GNB4:G protein subunit beta 4 [Gene - OMIM - HGNC]
  • GPR160:G protein-coupled receptor 160 [Gene - HGNC]
  • LPP:LIM domain containing preferred translocation partner in lipoma [Gene - OMIM - HGNC]
  • MAGEF1:MAGE family member F1 [Gene - OMIM - HGNC]
  • MAP6D1:MAP6 domain containing 1 [Gene - OMIM - HGNC]
  • MASP1:MBL associated serine protease 1 [Gene - OMIM - HGNC]
  • MCF2L2:MCF.2 cell line derived transforming sequence-like 2 [Gene - HGNC]
  • NAALADL2:N-acetylated alpha-linked acidic dipeptidase like 2 [Gene - OMIM - HGNC]
  • NDUFB5:NADH:ubiquinone oxidoreductase subunit B5 [Gene - OMIM - HGNC]
  • POLR2H:RNA polymerase II, I and III subunit H [Gene - OMIM - HGNC]
  • SEC62:SEC62 homolog, preprotein translocation factor [Gene - OMIM - HGNC]
  • SKIL:SKI like proto-oncogene [Gene - OMIM - HGNC]
  • SOX2-OT:SOX2 overlapping transcript [Gene - OMIM - HGNC]
  • SOX2:SRY-box transcription factor 2 [Gene - OMIM - HGNC]
  • ST6GAL1:ST6 beta-galactoside alpha-2,6-sialyltransferase 1 [Gene - OMIM - HGNC]
  • SENP2:SUMO specific peptidase 2 [Gene - OMIM - HGNC]
  • TBCCD1:TBCC domain containing 1 [Gene - OMIM - HGNC]
  • TBL1XR1:TBL1X/Y related 1 [Gene - OMIM - HGNC]
  • TNFSF10:TNF superfamily member 10 [Gene - OMIM - HGNC]
  • TNIK:TRAF2 and NCK interacting kinase [Gene - OMIM - HGNC]
  • B3GNT5:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 [Gene - OMIM - HGNC]
  • VPS8:VPS8 subunit of CORVET complex [Gene - OMIM - HGNC]
  • YEATS2:YEATS domain containing 2 [Gene - OMIM - HGNC]
  • ACTL6A:actin like 6A [Gene - OMIM - HGNC]
  • AP2M1:adaptor related protein complex 2 subunit mu 1 [Gene - OMIM - HGNC]
  • ADIPOQ:adiponectin, C1Q and collagen domain containing [Gene - OMIM - HGNC]
  • AHSG:alpha 2-HS glycoprotein [Gene - OMIM - HGNC]
  • CAMK2N2:calcium/calmodulin dependent protein kinase II inhibitor 2 [Gene - OMIM - HGNC]
  • CLCN2:chloride voltage-gated channel 2 [Gene - OMIM - HGNC]
  • CHRD:chordin [Gene - OMIM - HGNC]
  • C3orf70:chromosome 3 open reading frame 70 [Gene - HGNC]
  • CLDN11:claudin 11 [Gene - OMIM - HGNC]
  • CLDN16:claudin 16 [Gene - OMIM - HGNC]
  • CLDN1:claudin 1 [Gene - OMIM - HGNC]
  • CCDC39:coiled-coil domain containing 39 [Gene - OMIM - HGNC]
  • CRYGS:crystallin gamma S [Gene - OMIM - HGNC]
  • DCUN1D1:defective in cullin neddylation 1 domain containing 1 [Gene - OMIM - HGNC]
  • DGKG:diacylglycerol kinase gamma [Gene - OMIM - HGNC]
  • DVL3:dishevelled segment polarity protein 3 [Gene - OMIM - HGNC]
  • ECE2:endothelin converting enzyme 2 [Gene - OMIM - HGNC]
  • EHHADH:enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase [Gene - OMIM - HGNC]
  • ECT2:epithelial cell transforming 2 [Gene - OMIM - HGNC]
  • EIF2B5:eukaryotic translation initiation factor 2B subunit epsilon [Gene - OMIM - HGNC]
  • EIF4G1:eukaryotic translation initiation factor 4 gamma 1 [Gene - OMIM - HGNC]
  • EIF4A2:eukaryotic translation initiation factor 4A2 [Gene - OMIM - HGNC]
  • EIF5A2:eukaryotic translation initiation factor 5A2 [Gene - OMIM - HGNC]
  • FAM131A:family with sequence similarity 131 member A [Gene - HGNC]
  • FETUB:fetuin B [Gene - OMIM - HGNC]
  • FNDC3B:fibronectin type III domain containing 3B [Gene - OMIM - HGNC]
  • GMNC:geminin coiled-coil domain containing [Gene - OMIM - HGNC]
  • GHSR:growth hormone secretagogue receptor [Gene - OMIM - HGNC]
  • HRG:histidine rich glycoprotein [Gene - OMIM - HGNC]
  • IGF2BP2:insulin like growth factor 2 mRNA binding protein 2 [Gene - OMIM - HGNC]
  • IL1RAP:interleukin 1 receptor accessory protein [Gene - OMIM - HGNC]
  • KLHL24:kelch like family member 24 [Gene - OMIM - HGNC]
  • KLHL6:kelch like family member 6 [Gene - OMIM - HGNC]
  • KNG1:kininogen 1 [Gene - OMIM - HGNC]
  • LIPH:lipase H [Gene - OMIM - HGNC]
  • LAMP3:lysosomal associated membrane protein 3 [Gene - OMIM - HGNC]
  • MCCC1:methylcrotonyl-CoA carboxylase subunit 1 [Gene - OMIM - HGNC]
  • MIR1224:microRNA 1224 [Gene - OMIM - HGNC]
  • MIR28:microRNA 28 [Gene - OMIM - HGNC]
  • MRPL47:mitochondrial ribosomal protein L47 [Gene - OMIM - HGNC]
  • MFN1:mitofusin 1 [Gene - OMIM - HGNC]
  • MAP3K13:mitogen-activated protein kinase kinase kinase 13 [Gene - OMIM - HGNC]
  • NLGN1:neuroligin 1 [Gene - OMIM - HGNC]
  • NCEH1:neutral cholesterol ester hydrolase 1 [Gene - OMIM - HGNC]
  • PEX5L:peroxisomal biogenesis factor 5 like [Gene - OMIM - HGNC]
  • PIK3CA:phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [Gene - OMIM - HGNC]
  • PLD1:phospholipase D1 [Gene - OMIM - HGNC]
  • PHC3:polyhomeotic homolog 3 [Gene - HGNC]
  • KCNMB2:potassium calcium-activated channel subfamily M regulatory beta subunit 2 [Gene - OMIM - HGNC]
  • KCNMB3:potassium calcium-activated channel subfamily M regulatory beta subunit 3 [Gene - OMIM - HGNC]
  • PARL:presenilin associated rhomboid like [Gene - OMIM - HGNC]
  • P3H2:prolyl 3-hydroxylase 2 [Gene - OMIM - HGNC]
  • PSMD2:proteasome 26S subunit ubiquitin receptor, non-ATPase 2 [Gene - OMIM - HGNC]
  • PRKCI:protein kinase C iota [Gene - OMIM - HGNC]
  • RTP1:receptor transporter protein 1 [Gene - OMIM - HGNC]
  • RTP2:receptor transporter protein 2 [Gene - OMIM - HGNC]
  • RTP4:receptor transporter protein 4 [Gene - OMIM - HGNC]
  • RFC4:replication factor C subunit 4 [Gene - OMIM - HGNC]
  • RPL22L1:ribosomal protein L22 like 1 [Gene - HGNC]
  • RPL39L:ribosomal protein L39 like [Gene - OMIM - HGNC]
  • SNORA63:small nucleolar RNA, H/ACA box 63 [Gene - OMIM - HGNC]
  • SNORA81:small nucleolar RNA, H/ACA box 81 [Gene - OMIM - HGNC]
  • SLC2A2:solute carrier family 2 member 2 [Gene - OMIM - HGNC]
  • SLC7A14:solute carrier family 7 member 14 [Gene - OMIM - HGNC]
  • SST:somatostatin [Gene - OMIM - HGNC]
  • SPATA16:spermatogenesis associated 16 [Gene - OMIM - HGNC]
  • SAMD7:sterile alpha motif domain containing 7 [Gene - HGNC]
  • TTC14:tetratricopeptide repeat domain 14 [Gene - HGNC]
  • THPO:thrombopoietin [Gene - OMIM - HGNC]
  • TRA2B:transformer 2 beta homolog [Gene - OMIM - HGNC]
  • TMEM207:transmembrane protein 207 [Gene - OMIM - HGNC]
  • TMEM212:transmembrane protein 212 [Gene - HGNC]
  • TMEM41A:transmembrane protein 41A [Gene - HGNC]
  • TPRG1:tumor protein p63 regulated 1 [Gene - HGNC]
  • TP63:tumor protein p63 [Gene - OMIM - HGNC]
  • USP13:ubiquitin specific peptidase 13 [Gene - OMIM - HGNC]
  • VWA5B2:von Willebrand factor A domain containing 5B2 [Gene - HGNC]
  • ZMAT3:zinc finger matrin-type 3 [Gene - OMIM - HGNC]
  • ZNF639:zinc finger protein 639 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
3q26.2-28
Genomic location:
Chr3: 169617690 - 190593854 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV001165033Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    		Pathogenic
    (Nov 6, 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, SCV001165033.1

    #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: Apr 23, 2022