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GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000767816.1

Allele description [Variation Report for GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)]

GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)

Genes:
  • ADAMTS15:ADAM metallopeptidase with thrombospondin type 1 motif 15 [Gene - OMIM - HGNC]
  • ADAMTS8:ADAM metallopeptidase with thrombospondin type 1 motif 8 [Gene - OMIM - HGNC]
  • ABCG4:ATP binding cassette subfamily G member 4 [Gene - OMIM - HGNC]
  • ATP5MG:ATP synthase membrane subunit g [Gene - OMIM - HGNC]
  • BACE1-AS:BACE1 antisense RNA [Gene - OMIM - HGNC]
  • BARX2:BARX homeobox 2 [Gene - OMIM - HGNC]
  • BCL9L:BCL9 like [Gene - OMIM - HGNC]
  • BLID:BH3-like motif containing, cell death inducer [Gene - OMIM - HGNC]
  • CXCR5:C-X-C motif chemokine receptor 5 [Gene - OMIM - HGNC]
  • C1QTNF5:C1q and TNF related 5 [Gene - OMIM - HGNC]
  • C2CD2L:C2CD2 like [Gene - OMIM - HGNC]
  • CD3D:CD3 delta subunit of T-cell receptor complex [Gene - OMIM - HGNC]
  • CD3E:CD3 epsilon subunit of T-cell receptor complex [Gene - OMIM - HGNC]
  • CD3G:CD3 gamma subunit of T-cell receptor complex [Gene - OMIM - HGNC]
  • CLMP:CXADR like membrane protein [Gene - OMIM - HGNC]
  • CBL:Cbl proto-oncogene [Gene - OMIM - HGNC]
  • DDX25:DEAD-box helicase 25 [Gene - OMIM - HGNC]
  • DDX6:DEAD-box helicase 6 [Gene - OMIM - HGNC]
  • DSCAML1:DS cell adhesion molecule like 1 [Gene - OMIM - HGNC]
  • EI24:EI24 autophagy associated transmembrane protein [Gene - OMIM - HGNC]
  • ETS1:ETS proto-oncogene 1, transcription factor [Gene - OMIM - HGNC]
  • FOXRED1:FAD dependent oxidoreductase domain containing 1 [Gene - OMIM - HGNC]
  • FXYD2:FXYD domain containing ion transport regulator 2 [Gene - OMIM - HGNC]
  • FXYD6:FXYD domain containing ion transport regulator 6 [Gene - OMIM - HGNC]
  • FXYD6-FXYD2:FXYD6-FXYD2 readthrough [Gene - HGNC]
  • FLI1:Fli-1 proto-oncogene, ETS transcription factor [Gene - OMIM - HGNC]
  • GRAMD1B:GRAM domain containing 1B [Gene - OMIM - HGNC]
  • H2AX:H2A.X variant histone [Gene - OMIM - HGNC]
  • HYLS1:HYLS1 centriolar and ciliogenesis associated [Gene - OMIM - HGNC]
  • KCNJ5-AS1:KCNJ5 antisense RNA 1 [Gene - HGNC]
  • MSANTD2:Myb/SANT DNA binding domain containing 2 [Gene - HGNC]
  • NHERF4:NHERF family PDZ scaffold protein 4 [Gene - OMIM - HGNC]
  • NLRX1:NLR family member X1 [Gene - OMIM - HGNC]
  • PKNOX2:PBX/knotted 1 homeobox 2 [Gene - OMIM - HGNC]
  • POU2F3:POU class 2 homeobox 3 [Gene - OMIM - HGNC]
  • PRDM10:PR/SET domain 10 [Gene - OMIM - HGNC]
  • RPUSD4:RNA pseudouridine synthase D4 [Gene - OMIM - HGNC]
  • ARHGAP32:Rho GTPase activating protein 32 [Gene - OMIM - HGNC]
  • ARHGEF12:Rho guanine nucleotide exchange factor 12 [Gene - OMIM - HGNC]
  • SIDT2:SID1 transmembrane family member 2 [Gene - OMIM - HGNC]
  • SIK3:SIK family kinase 3 [Gene - OMIM - HGNC]
  • SRPRA:SRP receptor subunit alpha [Gene - OMIM - HGNC]
  • ST14:ST14 transmembrane serine protease matriptase [Gene - OMIM - HGNC]
  • ST3GAL4:ST3 beta-galactoside alpha-2,3-sialyltransferase 4 [Gene - OMIM - HGNC]
  • STT3A:STT3 oligosaccharyltransferase complex catalytic subunit A [Gene - OMIM - HGNC]
  • TIRAP:TIR domain containing adaptor protein [Gene - OMIM - HGNC]
  • TLCD5:TLC domain containing 5 [Gene - HGNC]
  • THY1:Thy-1 cell surface antigen [Gene - OMIM - HGNC]
  • VSIG2:V-set and immunoglobulin domain containing 2 [Gene - OMIM - HGNC]
  • VPS11:VPS11 core subunit of CORVET and HOPS complexes [Gene - OMIM - HGNC]
  • VPS26B:VPS26 retromer complex component B [Gene - OMIM - HGNC]
  • ACRV1:acrosomal vesicle protein 1 [Gene - OMIM - HGNC]
  • ACAD8:acyl-CoA dehydrogenase family member 8 [Gene - OMIM - HGNC]
  • APLP2:amyloid beta precursor like protein 2 [Gene - OMIM - HGNC]
  • APOA1:apolipoprotein A1 [Gene - OMIM - HGNC]
  • APOC3:apolipoprotein C3 [Gene - OMIM - HGNC]
  • ARCN1:archain 1 [Gene - OMIM - HGNC]
  • B3GAT1:beta-1,3-glucuronyltransferase 1 [Gene - OMIM - HGNC]
  • BACE1:beta-secretase 1 [Gene - OMIM - HGNC]
  • BSX:brain specific homeobox [Gene - OMIM - HGNC]
  • CDON:cell adhesion associated, oncogene regulated [Gene - OMIM - HGNC]
  • CENATAC:centrosomal AT-AC splicing factor [Gene - OMIM - HGNC]
  • CEP164:centrosomal protein 164 [Gene - OMIM - HGNC]
  • CHEK1:checkpoint kinase 1 [Gene - OMIM - HGNC]
  • CCDC153:coiled-coil domain containing 153 [Gene - HGNC]
  • CCDC15:coiled-coil domain containing 15 [Gene - HGNC]
  • CRTAM:cytotoxic and regulatory T cell molecule [Gene - OMIM - HGNC]
  • DCPS:decapping enzyme, scavenger [Gene - OMIM - HGNC]
  • DPAGT1:dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 [Gene - OMIM - HGNC]
  • ESAM:endothelial cell adhesion molecule [Gene - OMIM - HGNC]
  • FAM118B:family with sequence similarity 118 member B [Gene - OMIM - HGNC]
  • FEZ1:fasciculation and elongation protein zeta 1 [Gene - OMIM - HGNC]
  • FOXR1:forkhead box R1 [Gene - OMIM - HGNC]
  • GLB1L2:galactosidase beta 1 like 2 [Gene - HGNC]
  • GLB1L3:galactosidase beta 1 like 3 [Gene - HGNC]
  • GRIK4:glutamate ionotropic receptor kainate type subunit 4 [Gene - OMIM - HGNC]
  • HSPA8:heat shock protein family A (Hsp70) member 8 [Gene - OMIM - HGNC]
  • HEPACAM:hepatic and glial cell adhesion molecule [Gene - OMIM - HGNC]
  • HEPN1:hepatocellular carcinoma, down-regulated 1 [Gene - OMIM - HGNC]
  • HINFP:histone H4 transcription factor [Gene - OMIM - HGNC]
  • HMBS:hydroxymethylbilane synthase [Gene - OMIM - HGNC]
  • HYOU1:hypoxia up-regulated 1 [Gene - OMIM - HGNC]
  • IGSF9B:immunoglobulin superfamily member 9B [Gene - OMIM - HGNC]
  • IL10RA:interleukin 10 receptor subunit alpha [Gene - OMIM - HGNC]
  • IFT46:intraflagellar transport 46 [Gene - HGNC]
  • JAML:junction adhesion molecule like [Gene - OMIM - HGNC]
  • JAM3:junctional adhesion molecule 3 [Gene - OMIM - HGNC]
  • JHY:junctional cadherin complex regulator [Gene - OMIM - HGNC]
  • KIRREL3:kirre like nephrin family adhesion molecule 3 [Gene - OMIM - HGNC]
  • LINC02714:long intergenic non-protein coding RNA 2714 [Gene - HGNC]
  • LINC02743:long intergenic non-protein coding RNA 2743 [Gene - HGNC]
  • LINC02873:long intergenic non-protein coding RNA 2873 [Gene - HGNC]
  • KMT2A:lysine methyltransferase 2A [Gene - OMIM - HGNC]
  • MCAM:melanoma cell adhesion molecule [Gene - OMIM - HGNC]
  • MFRP:membrane frizzled-related protein [Gene - OMIM - HGNC]
  • MIR100:microRNA 100 [Gene - OMIM - HGNC]
  • MIR125B1:microRNA 125b-1 [Gene - OMIM - HGNC]
  • MIRLET7A2:microRNA let-7a-2 [Gene - OMIM - HGNC]
  • MPZL2:myelin protein zero like 2 [Gene - OMIM - HGNC]
  • MPZL3:myelin protein zero like 3 [Gene - OMIM - HGNC]
  • NECTIN1:nectin cell adhesion molecule 1 [Gene - OMIM - HGNC]
  • NRGN:neurogranin [Gene - OMIM - HGNC]
  • NTM:neurotrimin [Gene - OMIM - HGNC]
  • NCAPD3:non-SMC condensin II complex subunit D3 [Gene - OMIM - HGNC]
  • NFRKB:nuclear factor related to kappaB binding protein [Gene - OMIM - HGNC]
  • OR10G4:olfactory receptor family 10 subfamily G member 4 [Gene - HGNC]
  • OR10G7:olfactory receptor family 10 subfamily G member 7 [Gene - HGNC]
  • OR10G8:olfactory receptor family 10 subfamily G member 8 [Gene - HGNC]
  • OR10G9:olfactory receptor family 10 subfamily G member 9 [Gene - HGNC]
  • OR10S1:olfactory receptor family 10 subfamily S member 1 [Gene - HGNC]
  • OR4D5:olfactory receptor family 4 subfamily D member 5 [Gene - HGNC]
  • OR6M1:olfactory receptor family 6 subfamily M member 1 [Gene - HGNC]
  • OR6T1:olfactory receptor family 6 subfamily T member 1 [Gene - HGNC]
  • OR6X1:olfactory receptor family 6 subfamily X member 1 [Gene - HGNC]
  • OR8A1:olfactory receptor family 8 subfamily A member 1 [Gene - HGNC]
  • OR8B12:olfactory receptor family 8 subfamily B member 12 [Gene - HGNC]
  • OR8B2:olfactory receptor family 8 subfamily B member 2 [Gene - HGNC]
  • OR8B3:olfactory receptor family 8 subfamily B member 3 [Gene - HGNC]
  • OR8B4:olfactory receptor family 8 subfamily B member 4 [Gene - HGNC]
  • OR8B8:olfactory receptor family 8 subfamily B member 8 [Gene - HGNC]
  • OR8D1:olfactory receptor family 8 subfamily D member 1 [Gene - HGNC]
  • OR8D2:olfactory receptor family 8 subfamily D member 2 [Gene - HGNC]
  • OR8D4:olfactory receptor family 8 subfamily D member 4 [Gene - HGNC]
  • OR8G1:olfactory receptor family 8 subfamily G member 1 [Gene - HGNC]
  • OR8G5:olfactory receptor family 8 subfamily G member 5 [Gene - HGNC]
  • OPCML:opioid binding protein/cell adhesion molecule like [Gene - OMIM - HGNC]
  • OAF:out at first homolog [Gene - HGNC]
  • PANX3:pannexin 3 [Gene - OMIM - HGNC]
  • PAFAH1B2:platelet activating factor acetylhydrolase 1b catalytic subunit 2 [Gene - OMIM - HGNC]
  • PHLDB1:pleckstrin homology like domain family B member 1 [Gene - OMIM - HGNC]
  • KCNJ1:potassium inwardly rectifying channel subfamily J member 1 [Gene - OMIM - HGNC]
  • KCNJ5:potassium inwardly rectifying channel subfamily J member 5 [Gene - OMIM - HGNC]
  • PCSK7:proprotein convertase subtilisin/kexin type 7 [Gene - OMIM - HGNC]
  • PATE1:prostate and testis expressed 1 [Gene - OMIM - HGNC]
  • PATE2:prostate and testis expressed 2 [Gene - HGNC]
  • PATE3:prostate and testis expressed 3 [Gene - HGNC]
  • PATE4:prostate and testis expressed 4 [Gene - HGNC]
  • PUS3:pseudouridine synthase 3 [Gene - OMIM - HGNC]
  • RPS25:ribosomal protein S25 [Gene - OMIM - HGNC]
  • RNF214:ring finger protein 214 [Gene - HGNC]
  • RNF26:ring finger protein 26 [Gene - OMIM - HGNC]
  • ROBO3:roundabout guidance receptor 3 [Gene - OMIM - HGNC]
  • ROBO4:roundabout guidance receptor 4 [Gene - OMIM - HGNC]
  • SIAE:sialic acid acetylesterase [Gene - OMIM - HGNC]
  • SCN2B:sodium voltage-gated channel beta subunit 2 [Gene - OMIM - HGNC]
  • SCN3B:sodium voltage-gated channel beta subunit 3 [Gene - OMIM - HGNC]
  • SCN4B:sodium voltage-gated channel beta subunit 4 [Gene - OMIM - HGNC]
  • SLC37A2:solute carrier family 37 member 2 [Gene - OMIM - HGNC]
  • SLC37A4:solute carrier family 37 member 4 [Gene - OMIM - HGNC]
  • SORL1:sortilin related receptor 1 [Gene - OMIM - HGNC]
  • SNX19:sorting nexin 19 [Gene - HGNC]
  • SPA17:sperm autoantigenic protein 17 [Gene - OMIM - HGNC]
  • SPATA19:spermatogenesis associated 19 [Gene - OMIM - HGNC]
  • SC5D:sterol-C5-desaturase [Gene - OMIM - HGNC]
  • TECTA:tectorin alpha [Gene - OMIM - HGNC]
  • TTC36:tetratricopeptide repeat domain 36 [Gene - HGNC]
  • THYN1:thymocyte nuclear protein 1 [Gene - OMIM - HGNC]
  • TRAPPC4:trafficking protein particle complex subunit 4 [Gene - OMIM - HGNC]
  • TBRG1:transforming growth factor beta regulator 1 [Gene - OMIM - HGNC]
  • TAGLN:transgelin [Gene - OMIM - HGNC]
  • TMEM218:transmembrane protein 218 [Gene - OMIM - HGNC]
  • TMEM225:transmembrane protein 225 [Gene - HGNC]
  • TMEM25:transmembrane protein 25 [Gene - OMIM - HGNC]
  • TMEM45B:transmembrane protein 45B [Gene - HGNC]
  • TMPRSS13:transmembrane serine protease 13 [Gene - OMIM - HGNC]
  • TMPRSS4:transmembrane serine protease 4 [Gene - OMIM - HGNC]
  • TREH:trehalase [Gene - OMIM - HGNC]
  • TRIM29:tripartite motif containing 29 [Gene - OMIM - HGNC]
  • TBCEL:tubulin folding cofactor E like [Gene - OMIM - HGNC]
  • TP53AIP1:tumor protein p53 regulated apoptosis inducing protein 1 [Gene - OMIM - HGNC]
  • UBASH3B:ubiquitin associated and SH3 domain containing B [Gene - OMIM - HGNC]
  • USP2:ubiquitin specific peptidase 2 [Gene - OMIM - HGNC]
  • UBE4A:ubiquitination factor E4A [Gene - OMIM - HGNC]
  • LOC101929473:uncharacterized LOC101929473 [Gene]
  • UPK2:uroplakin 2 [Gene - OMIM - HGNC]
  • VWA5A:von Willebrand factor A domain containing 5A [Gene - OMIM - HGNC]
  • ZBTB44:zinc finger and BTB domain containing 44 [Gene - HGNC]
  • ZNF202:zinc finger protein 202 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
11q23.3-25
Genomic location:
Chr11: 116700253 - 134904063 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)
Observations:
1

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
SCV000898438Baylor Genetics
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)		Pathogenic
(Nov 1, 2018) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown11not providednot providednot providedclinical testing

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]
PMID:
21681106

Details of each submission

From Baylor Genetics, SCV000898438.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

This CNV was detected in a symptomatic patient referred for CMA testing, but consent was not obtained to report individual clinical features

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not provided1not provided

Last Updated: Mar 26, 2023