U.S. flag

An official website of the United States government

GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 30, 2009
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:
RCV000135440.5

Allele description [Variation Report for GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1]

GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1

Genes:
  • AAR2:AAR2 splicing factor [Gene - OMIM - HGNC]
  • LOC130065678:ATAC-STARR-seq lymphoblastoid active region 17731 [Gene]
  • LOC130065681:ATAC-STARR-seq lymphoblastoid active region 17734 [Gene]
  • LOC130065684:ATAC-STARR-seq lymphoblastoid active region 17735 [Gene]
  • LOC130065686:ATAC-STARR-seq lymphoblastoid active region 17738 [Gene]
  • LOC130065688:ATAC-STARR-seq lymphoblastoid active region 17739 [Gene]
  • LOC130065691:ATAC-STARR-seq lymphoblastoid active region 17741 [Gene]
  • LOC130065692:ATAC-STARR-seq lymphoblastoid active region 17742 [Gene]
  • LOC130065693:ATAC-STARR-seq lymphoblastoid active region 17743 [Gene]
  • LOC130065695:ATAC-STARR-seq lymphoblastoid active region 17745 [Gene]
  • LOC130065697:ATAC-STARR-seq lymphoblastoid active region 17746 [Gene]
  • LOC130065700:ATAC-STARR-seq lymphoblastoid active region 17749 [Gene]
  • LOC130065702:ATAC-STARR-seq lymphoblastoid active region 17750 [Gene]
  • LOC130065703:ATAC-STARR-seq lymphoblastoid active region 17751 [Gene]
  • LOC130065704:ATAC-STARR-seq lymphoblastoid active region 17752 [Gene]
  • LOC130065709:ATAC-STARR-seq lymphoblastoid active region 17755 [Gene]
  • LOC130065711:ATAC-STARR-seq lymphoblastoid active region 17756 [Gene]
  • LOC130065712:ATAC-STARR-seq lymphoblastoid active region 17757 [Gene]
  • LOC130065713:ATAC-STARR-seq lymphoblastoid active region 17758 [Gene]
  • LOC130065715:ATAC-STARR-seq lymphoblastoid active region 17759 [Gene]
  • LOC130065716:ATAC-STARR-seq lymphoblastoid active region 17760 [Gene]
  • LOC130065717:ATAC-STARR-seq lymphoblastoid active region 17761 [Gene]
  • LOC130065718:ATAC-STARR-seq lymphoblastoid active region 17762 [Gene]
  • LOC130065720:ATAC-STARR-seq lymphoblastoid active region 17763 [Gene]
  • LOC130065721:ATAC-STARR-seq lymphoblastoid active region 17764 [Gene]
  • LOC130065723:ATAC-STARR-seq lymphoblastoid active region 17765 [Gene]
  • LOC130065724:ATAC-STARR-seq lymphoblastoid active region 17766 [Gene]
  • LOC130065736:ATAC-STARR-seq lymphoblastoid active region 17768 [Gene]
  • LOC130065737:ATAC-STARR-seq lymphoblastoid active region 17769 [Gene]
  • LOC130065740:ATAC-STARR-seq lymphoblastoid active region 17770 [Gene]
  • LOC130065741:ATAC-STARR-seq lymphoblastoid active region 17771 [Gene]
  • LOC130065742:ATAC-STARR-seq lymphoblastoid active region 17772 [Gene]
  • LOC130065743:ATAC-STARR-seq lymphoblastoid active region 17773 [Gene]
  • LOC130065746:ATAC-STARR-seq lymphoblastoid active region 17774 [Gene]
  • LOC130065747:ATAC-STARR-seq lymphoblastoid active region 17775 [Gene]
  • LOC130065748:ATAC-STARR-seq lymphoblastoid active region 17776 [Gene]
  • LOC130065749:ATAC-STARR-seq lymphoblastoid active region 17777 [Gene]
  • LOC130065750:ATAC-STARR-seq lymphoblastoid active region 17778 [Gene]
  • LOC130065754:ATAC-STARR-seq lymphoblastoid active region 17779 [Gene]
  • LOC130065756:ATAC-STARR-seq lymphoblastoid active region 17783 [Gene]
  • LOC130065757:ATAC-STARR-seq lymphoblastoid active region 17784 [Gene]
  • LOC130065760:ATAC-STARR-seq lymphoblastoid active region 17785 [Gene]
  • LOC130065761:ATAC-STARR-seq lymphoblastoid active region 17786 [Gene]
  • LOC130065764:ATAC-STARR-seq lymphoblastoid active region 17787 [Gene]
  • LOC130065765:ATAC-STARR-seq lymphoblastoid active region 17789 [Gene]
  • LOC130065766:ATAC-STARR-seq lymphoblastoid active region 17790 [Gene]
  • LOC130065768:ATAC-STARR-seq lymphoblastoid active region 17795 [Gene]
  • LOC130065770:ATAC-STARR-seq lymphoblastoid active region 17798 [Gene]
  • LOC130065771:ATAC-STARR-seq lymphoblastoid active region 17799 [Gene]
  • LOC130065772:ATAC-STARR-seq lymphoblastoid active region 17800 [Gene]
  • LOC130065773:ATAC-STARR-seq lymphoblastoid active region 17801 [Gene]
  • LOC130065774:ATAC-STARR-seq lymphoblastoid active region 17802 [Gene]
  • LOC130065775:ATAC-STARR-seq lymphoblastoid active region 17803 [Gene]
  • LOC130065778:ATAC-STARR-seq lymphoblastoid active region 17804 [Gene]
  • LOC130065781:ATAC-STARR-seq lymphoblastoid active region 17805 [Gene]
  • LOC130065782:ATAC-STARR-seq lymphoblastoid active region 17807 [Gene]
  • LOC130065783:ATAC-STARR-seq lymphoblastoid active region 17808 [Gene]
  • LOC130065785:ATAC-STARR-seq lymphoblastoid active region 17809 [Gene]
  • LOC130065789:ATAC-STARR-seq lymphoblastoid active region 17810 [Gene]
  • LOC130065790:ATAC-STARR-seq lymphoblastoid active region 17811 [Gene]
  • LOC130065791:ATAC-STARR-seq lymphoblastoid active region 17812 [Gene]
  • LOC130065792:ATAC-STARR-seq lymphoblastoid active region 17813 [Gene]
  • LOC130065794:ATAC-STARR-seq lymphoblastoid active region 17814 [Gene]
  • LOC130065679:ATAC-STARR-seq lymphoblastoid silent region 12811 [Gene]
  • LOC130065680:ATAC-STARR-seq lymphoblastoid silent region 12812 [Gene]
  • LOC130065682:ATAC-STARR-seq lymphoblastoid silent region 12813 [Gene]
  • LOC130065683:ATAC-STARR-seq lymphoblastoid silent region 12814 [Gene]
  • LOC130065685:ATAC-STARR-seq lymphoblastoid silent region 12815 [Gene]
  • LOC130065687:ATAC-STARR-seq lymphoblastoid silent region 12817 [Gene]
  • LOC130065689:ATAC-STARR-seq lymphoblastoid silent region 12819 [Gene]
  • LOC130065690:ATAC-STARR-seq lymphoblastoid silent region 12820 [Gene]
  • LOC130065694:ATAC-STARR-seq lymphoblastoid silent region 12821 [Gene]
  • LOC130065696:ATAC-STARR-seq lymphoblastoid silent region 12822 [Gene]
  • LOC130065698:ATAC-STARR-seq lymphoblastoid silent region 12823 [Gene]
  • LOC130065699:ATAC-STARR-seq lymphoblastoid silent region 12825 [Gene]
  • LOC130065701:ATAC-STARR-seq lymphoblastoid silent region 12826 [Gene]
  • LOC130065705:ATAC-STARR-seq lymphoblastoid silent region 12828 [Gene]
  • LOC130065706:ATAC-STARR-seq lymphoblastoid silent region 12829 [Gene]
  • LOC130065707:ATAC-STARR-seq lymphoblastoid silent region 12830 [Gene]
  • LOC130065708:ATAC-STARR-seq lymphoblastoid silent region 12831 [Gene]
  • LOC130065710:ATAC-STARR-seq lymphoblastoid silent region 12832 [Gene]
  • LOC130065714:ATAC-STARR-seq lymphoblastoid silent region 12833 [Gene]
  • LOC130065719:ATAC-STARR-seq lymphoblastoid silent region 12834 [Gene]
  • LOC130065722:ATAC-STARR-seq lymphoblastoid silent region 12835 [Gene]
  • LOC130065725:ATAC-STARR-seq lymphoblastoid silent region 12837 [Gene]
  • LOC130065726:ATAC-STARR-seq lymphoblastoid silent region 12838 [Gene]
  • LOC130065727:ATAC-STARR-seq lymphoblastoid silent region 12839 [Gene]
  • LOC130065728:ATAC-STARR-seq lymphoblastoid silent region 12840 [Gene]
  • LOC130065729:ATAC-STARR-seq lymphoblastoid silent region 12843 [Gene]
  • LOC130065730:ATAC-STARR-seq lymphoblastoid silent region 12844 [Gene]
  • LOC130065731:ATAC-STARR-seq lymphoblastoid silent region 12845 [Gene]
  • LOC130065732:ATAC-STARR-seq lymphoblastoid silent region 12846 [Gene]
  • LOC130065733:ATAC-STARR-seq lymphoblastoid silent region 12847 [Gene]
  • LOC130065734:ATAC-STARR-seq lymphoblastoid silent region 12848 [Gene]
  • LOC130065735:ATAC-STARR-seq lymphoblastoid silent region 12849 [Gene]
  • LOC130065738:ATAC-STARR-seq lymphoblastoid silent region 12850 [Gene]
  • LOC130065739:ATAC-STARR-seq lymphoblastoid silent region 12851 [Gene]
  • LOC130065744:ATAC-STARR-seq lymphoblastoid silent region 12852 [Gene]
  • LOC130065745:ATAC-STARR-seq lymphoblastoid silent region 12853 [Gene]
  • LOC130065751:ATAC-STARR-seq lymphoblastoid silent region 12854 [Gene]
  • LOC130065752:ATAC-STARR-seq lymphoblastoid silent region 12855 [Gene]
  • LOC130065753:ATAC-STARR-seq lymphoblastoid silent region 12856 [Gene]
  • LOC130065755:ATAC-STARR-seq lymphoblastoid silent region 12857 [Gene]
  • LOC130065758:ATAC-STARR-seq lymphoblastoid silent region 12858 [Gene]
  • LOC130065759:ATAC-STARR-seq lymphoblastoid silent region 12859 [Gene]
  • LOC130065762:ATAC-STARR-seq lymphoblastoid silent region 12860 [Gene]
  • LOC130065763:ATAC-STARR-seq lymphoblastoid silent region 12861 [Gene]
  • LOC130065767:ATAC-STARR-seq lymphoblastoid silent region 12863 [Gene]
  • LOC130065769:ATAC-STARR-seq lymphoblastoid silent region 12864 [Gene]
  • LOC130065776:ATAC-STARR-seq lymphoblastoid silent region 12866 [Gene]
  • LOC130065777:ATAC-STARR-seq lymphoblastoid silent region 12867 [Gene]
  • LOC130065779:ATAC-STARR-seq lymphoblastoid silent region 12869 [Gene]
  • LOC130065780:ATAC-STARR-seq lymphoblastoid silent region 12870 [Gene]
  • LOC130065784:ATAC-STARR-seq lymphoblastoid silent region 12872 [Gene]
  • LOC130065786:ATAC-STARR-seq lymphoblastoid silent region 12873 [Gene]
  • LOC130065787:ATAC-STARR-seq lymphoblastoid silent region 12874 [Gene]
  • LOC130065788:ATAC-STARR-seq lymphoblastoid silent region 12875 [Gene]
  • LOC130065793:ATAC-STARR-seq lymphoblastoid silent region 12876 [Gene]
  • LOC126863021:BRD4-independent group 4 enhancer GRCh37_chr20:34799860-34801059 [Gene]
  • CBFA2T2:CBFA2/RUNX1 partner transcriptional co-repressor 2 [Gene - OMIM - HGNC]
  • LOC126863016:CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:32664206-32665405 [Gene]
  • LOC126863017:CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:33113424-33114623 [Gene]
  • LOC126863018:CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:33508643-33509842 [Gene]
  • LOC126863022:CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:34858840-34860039 [Gene]
  • CEP250-AS1:CEP250 antisense RNA 1 [Gene - HGNC]
  • DLGAP4:DLG associated protein 4 [Gene - OMIM - HGNC]
  • DLGAP4-AS1:DLGAP4 antisense RNA 1 [Gene - HGNC]
  • DSN1:DSN1 component of MIS12 kinetochore complex [Gene - OMIM - HGNC]
  • E2F1:E2F transcription factor 1 [Gene - OMIM - HGNC]
  • EPB41L1-AS1:EPB41L1 antisense RNA 1 [Gene - HGNC]
  • EDEM2:ER degradation enhancing alpha-mannosidase like protein 2 [Gene - OMIM - HGNC]
  • ERGIC3:ERGIC and golgi 3 [Gene - OMIM - HGNC]
  • FAM83C-AS1:FAM83C antisense RNA 1 [Gene - HGNC]
  • GDF5-AS1:GDF5 antisense RNA 1 [Gene - HGNC]
  • LOC109461476:GDF5 promoter region [Gene]
  • LOC126863019:MED14-independent group 3 enhancer GRCh37_chr20:33721175-33722374 [Gene]
  • LOC126863020:MED14-independent group 3 enhancer GRCh37_chr20:34637879-34639078 [Gene]
  • LOC126863023:MED14-independent group 3 enhancer GRCh37_chr20:35235327-35236526 [Gene]
  • MMP24OS:MMP24 opposite strand [Gene - HGNC]
  • MMP24-AS1-EDEM2:MMP24-AS1-EDEM2 readthrough [Gene]
  • LOC129391166:MPRA-validated peak4195 silencer [Gene]
  • LOC129391167:MPRA-validated peak4198 silencer [Gene]
  • LOC129391168:MPRA-validated peak4201 silencer [Gene]
  • LOC129391169:MPRA-validated peak4202 silencer [Gene]
  • LOC129391170:MPRA-validated peak4203 silencer [Gene]
  • LOC129391171:MPRA-validated peak4204 silencer [Gene]
  • NECAB3:N-terminal EF-hand calcium binding protein 3 [Gene - OMIM - HGNC]
  • NDRG3:NDRG family member 3 [Gene - OMIM - HGNC]
  • NFS1:NFS1 cysteine desulfurase [Gene - OMIM - HGNC]
  • LOC112694707:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:33893217-33894416 [Gene]
  • PHF20:PHD finger protein 20 [Gene - OMIM - HGNC]
  • LOC108254667:PHF20 intron CAGE-defined high expression enhancer [Gene]
  • RAB5IF:RAB5 interacting factor [Gene - OMIM - HGNC]
  • RALY-AS1:RALY antisense RNA 1 [Gene - HGNC]
  • RALY:RALY heterogeneous nuclear ribonucleoprotein [Gene - OMIM - HGNC]
  • RBM12:RNA binding motif protein 12 [Gene - OMIM - HGNC]
  • RBM39:RNA binding motif protein 39 [Gene - OMIM - HGNC]
  • SCAND1:SCAN domain containing 1 [Gene - OMIM - HGNC]
  • LOC125387261:Sharpr-MPRA regulatory region 10290 [Gene]
  • LOC121627903:Sharpr-MPRA regulatory region 10659 [Gene]
  • LOC112694706:Sharpr-MPRA regulatory region 12013 [Gene]
  • LOC125387260:Sharpr-MPRA regulatory region 13564 [Gene]
  • LOC125387262:Sharpr-MPRA regulatory region 13945 [Gene]
  • LOC121853004:Sharpr-MPRA regulatory region 14546 [Gene]
  • LOC121627904:Sharpr-MPRA regulatory region 14745 [Gene]
  • LOC125387265:Sharpr-MPRA regulatory region 2555 [Gene]
  • LOC112694708:Sharpr-MPRA regulatory region 2694 [Gene]
  • LOC125387264:Sharpr-MPRA regulatory region 3991 [Gene]
  • LOC112694705:Sharpr-MPRA regulatory region 4652 [Gene]
  • LOC125387263:Sharpr-MPRA regulatory region 6334 [Gene]
  • LOC121627905:Sharpr-MPRA regulatory region 7536 [Gene]
  • SLA2:Src like adaptor 2 [Gene - OMIM - HGNC]
  • TGIF2:TGFB induced factor homeobox 2 [Gene - OMIM - HGNC]
  • TGIF2-RAB5IF:TGIF2-RAB5IF readthrough [Gene - HGNC]
  • ZNF341-AS1:ZNF341 antisense RNA 1 [Gene - HGNC]
  • ACTL10:actin like 10 [Gene - HGNC]
  • ACSS2:acyl-CoA synthetase short chain family member 2 [Gene - OMIM - HGNC]
  • AHCY:adenosylhomocysteinase [Gene - OMIM - HGNC]
  • ASIP:agouti signaling protein [Gene - OMIM - HGNC]
  • CEP250:centrosomal protein 250 [Gene - OMIM - HGNC]
  • CHMP4B:charged multivesicular body protein 4B [Gene - OMIM - HGNC]
  • C20orf144:chromosome 20 open reading frame 144 [Gene - HGNC]
  • C20orf173:chromosome 20 open reading frame 173 [Gene - HGNC]
  • CPNE1:copine 1 [Gene - OMIM - HGNC]
  • CNBD2:cyclic nucleotide binding domain containing 2 [Gene - HGNC]
  • DYNLRB1:dynein light chain roadblock-type 1 [Gene - OMIM - HGNC]
  • EPB41L1:erythrocyte membrane protein band 4.1 like 1 [Gene - OMIM - HGNC]
  • EIF2S2:eukaryotic translation initiation factor 2 subunit beta [Gene - OMIM - HGNC]
  • EIF6:eukaryotic translation initiation factor 6 [Gene - OMIM - HGNC]
  • FAM83C:family with sequence similarity 83 member C [Gene - HGNC]
  • GGT7:gamma-glutamyltransferase 7 [Gene - OMIM - HGNC]
  • GSS:glutathione synthetase [Gene - OMIM - HGNC]
  • GDF5:growth differentiation factor 5 [Gene - OMIM - HGNC]
  • ITCH:itchy E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
  • MMP24:matrix metallopeptidase 24 [Gene - OMIM - HGNC]
  • MIR1289-1:microRNA 1289-1 [Gene - HGNC]
  • MIR4755:microRNA 4755 [Gene - HGNC]
  • MIR499A:microRNA 499a [Gene - OMIM - HGNC]
  • MIR499B:microRNA 499b [Gene - HGNC]
  • MIR644A:microRNA 644a [Gene - HGNC]
  • MAP1LC3A:microtubule associated protein 1 light chain 3 alpha [Gene - OMIM - HGNC]
  • MTCL2:microtubule crosslinking factor 2 [Gene - OMIM - HGNC]
  • MYH7B:myosin heavy chain 7B [Gene - OMIM - HGNC]
  • MYL9:myosin light chain 9 [Gene - OMIM - HGNC]
  • NORAD:non-coding RNA activated by DNA damage [Gene - OMIM - HGNC]
  • NCOA6:nuclear receptor coactivator 6 [Gene - OMIM - HGNC]
  • PXMP4:peroxisomal membrane protein 4 [Gene - OMIM - HGNC]
  • PIGU:phosphatidylinositol glycan anchor biosynthesis class U [Gene - OMIM - HGNC]
  • PROCR:protein C receptor [Gene - OMIM - HGNC]
  • ROMO1:reactive oxygen species modulator 1 [Gene - OMIM - HGNC]
  • SPAG4:sperm associated antigen 4 [Gene - OMIM - HGNC]
  • SNTA1:syntrophin alpha 1 [Gene - OMIM - HGNC]
  • TRPC4AP:transient receptor potential cation channel subfamily C member 4 associated protein [Gene - OMIM - HGNC]
  • TP53INP2:tumor protein p53 inducible nuclear protein 2 [Gene - OMIM - HGNC]
  • UQCC1:ubiquinol-cytochrome c reductase complex assembly factor 1 [Gene - OMIM - HGNC]
  • ZNF341:zinc finger protein 341 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
20q11.21-11.23
Genomic location:
Preferred name:
GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1
HGVS:
  • NC_000020.11:g.(?_33432363)_(36821881_?)del
  • NC_000020.10:g.(?_32020169)_(35450284_?)del
  • NC_000020.9:g.(?_31483830)_(34883698_?)del
Links:
dbVar: nssv582288; dbVar: nsv529104
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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
SCV000175139ISCA site 17

See additional submitters

no assertion criteria provided
Pathogenic
(Jul 30, 2009) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 17, SCV000175139.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024