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GRCh38/hg38 22q11.23(chr22:23285152-24723136)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2011
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:
RCV000053164.7

Allele description [Variation Report for GRCh38/hg38 22q11.23(chr22:23285152-24723136)x3]

GRCh38/hg38 22q11.23(chr22:23285152-24723136)x3

Genes:
  • ADORA2A-AS1:ADORA2A antisense RNA 1 [Gene - HGNC]
  • LOC129929045:ATAC-STARR-seq lymphoblastoid active region 18755 [Gene]
  • LOC130067094:ATAC-STARR-seq lymphoblastoid active region 18756 [Gene]
  • LOC130067095:ATAC-STARR-seq lymphoblastoid active region 18759 [Gene]
  • LOC130067097:ATAC-STARR-seq lymphoblastoid active region 18761 [Gene]
  • LOC130067098:ATAC-STARR-seq lymphoblastoid active region 18762 [Gene]
  • LOC130067099:ATAC-STARR-seq lymphoblastoid active region 18763 [Gene]
  • LOC130067100:ATAC-STARR-seq lymphoblastoid active region 18764 [Gene]
  • LOC130067101:ATAC-STARR-seq lymphoblastoid active region 18765 [Gene]
  • LOC130067102:ATAC-STARR-seq lymphoblastoid active region 18766 [Gene]
  • LOC130067104:ATAC-STARR-seq lymphoblastoid active region 18767 [Gene]
  • LOC130067105:ATAC-STARR-seq lymphoblastoid active region 18768 [Gene]
  • LOC130067106:ATAC-STARR-seq lymphoblastoid active region 18769 [Gene]
  • LOC130067110:ATAC-STARR-seq lymphoblastoid active region 18770 [Gene]
  • LOC130067111:ATAC-STARR-seq lymphoblastoid active region 18771 [Gene]
  • LOC130067114:ATAC-STARR-seq lymphoblastoid active region 18772 [Gene]
  • LOC130067115:ATAC-STARR-seq lymphoblastoid active region 18773 [Gene]
  • LOC130067116:ATAC-STARR-seq lymphoblastoid active region 18774 [Gene]
  • LOC130067117:ATAC-STARR-seq lymphoblastoid active region 18775 [Gene]
  • LOC130067118:ATAC-STARR-seq lymphoblastoid active region 18776 [Gene]
  • LOC130067119:ATAC-STARR-seq lymphoblastoid active region 18777 [Gene]
  • LOC130067121:ATAC-STARR-seq lymphoblastoid active region 18778 [Gene]
  • LOC130067123:ATAC-STARR-seq lymphoblastoid active region 18779 [Gene]
  • LOC130067124:ATAC-STARR-seq lymphoblastoid active region 18780 [Gene]
  • LOC130067093:ATAC-STARR-seq lymphoblastoid silent region 13540 [Gene]
  • LOC130067096:ATAC-STARR-seq lymphoblastoid silent region 13543 [Gene]
  • LOC130067103:ATAC-STARR-seq lymphoblastoid silent region 13547 [Gene]
  • LOC130067107:ATAC-STARR-seq lymphoblastoid silent region 13548 [Gene]
  • LOC130067108:ATAC-STARR-seq lymphoblastoid silent region 13549 [Gene]
  • LOC130067109:ATAC-STARR-seq lymphoblastoid silent region 13550 [Gene]
  • LOC130067112:ATAC-STARR-seq lymphoblastoid silent region 13551 [Gene]
  • LOC130067113:ATAC-STARR-seq lymphoblastoid silent region 13552 [Gene]
  • LOC130067120:ATAC-STARR-seq lymphoblastoid silent region 13553 [Gene]
  • LOC130067122:ATAC-STARR-seq lymphoblastoid silent region 13554 [Gene]
  • BCR:BCR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
  • LOC107963955:BCR-ABL major-breakpoint cluster region [Gene]
  • LOC107963948:BCR-ABL micro-breakpoint cluster region [Gene]
  • LOC107966125:BCR-ABL p225 breakpoint cluster region [Gene]
  • DDTL:D-dopachrome tautomerase like [Gene - HGNC]
  • DDT:D-dopachrome tautomerase [Gene - OMIM - HGNC]
  • MIF-AS1:MIF antisense RNA 1 [Gene - HGNC]
  • LOC129391273:MPRA-validated peak4472 silencer [Gene]
  • SPECC1L-ADORA2A:SPECC1L-ADORA2A readthrough (NMD candidate) [Gene - HGNC]
  • SMARCB1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [Gene - OMIM - HGNC]
  • LOC121627934:Sharpr-MPRA regulatory region 1007 [Gene]
  • LOC112694770:Sharpr-MPRA regulatory region 10281 [Gene]
  • LOC121627933:Sharpr-MPRA regulatory region 15419 [Gene]
  • LOC125424396:Sharpr-MPRA regulatory region 1554 [Gene]
  • LOC125424397:Sharpr-MPRA regulatory region 3008 [Gene]
  • LOC125424398:Sharpr-MPRA regulatory region 3699 [Gene]
  • LOC125424395:Sharpr-MPRA regulatory region 3793 [Gene]
  • LOC125424393:Sharpr-MPRA regulatory region 4313 [Gene]
  • LOC125424394:Sharpr-MPRA regulatory region 8041 [Gene]
  • LOC111828506:Sharpr-MPRA regulatory regions 962 and 2236 [Gene]
  • VPREB3:V-set pre-B cell surrogate light chain 3 [Gene - OMIM - HGNC]
  • ADORA2A:adenosine A2a receptor [Gene - OMIM - HGNC]
  • DRICH1:aspartate rich 1 [Gene - HGNC]
  • UPB1:beta-ureidopropionase 1 [Gene - OMIM - HGNC]
  • CABIN1:calcineurin binding protein 1 [Gene - OMIM - HGNC]
  • C22orf15:chromosome 22 open reading frame 15 [Gene - HGNC]
  • CHCHD10:coiled-coil-helix-coiled-coil-helix domain containing 10 [Gene - OMIM - HGNC]
  • DERL3:derlin 3 [Gene - OMIM - HGNC]
  • FAM230I:family with sequence similarity 230 member I [Gene - HGNC]
  • GGT1:gamma-glutamyltransferase 1 [Gene - OMIM - HGNC]
  • GGT5:gamma-glutamyltransferase 5 [Gene - OMIM - HGNC]
  • GSTT2:glutathione S-transferase theta 2 (gene/pseudogene) [Gene - OMIM - HGNC]
  • GSTT2B:glutathione S-transferase theta 2B [Gene - HGNC]
  • GSTT4:glutathione S-transferase theta 4 [Gene - HGNC]
  • GUCD1:guanylyl cyclase domain containing 1 [Gene - OMIM - HGNC]
  • IGLL1:immunoglobulin lambda like polypeptide 1 [Gene - OMIM - HGNC]
  • LRRC75B:leucine rich repeat containing 75B [Gene - HGNC]
  • LINC01659:long intergenic non-protein coding RNA 1659 [Gene - HGNC]
  • LINC02556:long intergenic non-protein coding RNA 2556 [Gene - HGNC]
  • LINC02557:long intergenic non-protein coding RNA 2557 [Gene - HGNC]
  • MIF:macrophage migration inhibitory factor [Gene - OMIM - HGNC]
  • MMP11:matrix metallopeptidase 11 [Gene - OMIM - HGNC]
  • PIWIL3:piwi like RNA-mediated gene silencing 3 [Gene - OMIM - HGNC]
  • PCAT14:prostate cancer associated transcript 14 [Gene - HGNC]
  • RGL4:ral guanine nucleotide dissociation stimulator like 4 [Gene - OMIM - HGNC]
  • LOC111721702:skeletal muscle cis-regulatory module in CABIN1 intron [Gene]
  • LOC111721701:skeletal muscle cis-regulatory module in DERL3 and SLC2A11 intergenic region [Gene]
  • SNRPD3:small nuclear ribonucleoprotein D3 polypeptide [Gene - OMIM - HGNC]
  • SLC2A11:solute carrier family 2 member 11 [Gene - OMIM - HGNC]
  • SPECC1L:sperm antigen with calponin homology and coiled-coil domains 1 like [Gene - OMIM - HGNC]
  • SUSD2:sushi domain containing 2 [Gene - OMIM - HGNC]
  • ZNF70:zinc finger protein 70 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
22q11.23
Genomic location:
Preferred name:
GRCh38/hg38 22q11.23(chr22:23285152-24723136)x3
HGVS:
  • NC_000022.11:g.(?_23285152)_(24723136_?)dup
  • NC_000022.10:g.(?_23627339)_(25119103_?)dup
  • NC_000022.9:g.(?_21957339)_(23449103_?)dup
Links:
dbVar: nssv580286; dbVar: nsv531845
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000080520ISCA Site 6

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Uncertain significance
(Aug 12, 2011) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA Site 6, SCV000080520.5

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

Last Updated: May 7, 2024