U.S. flag

An official website of the United States government

GRCh38/hg38 22q11.23(chr22:23804407-24669609)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 22, 2010
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:
RCV000137178.5

Allele description [Variation Report for GRCh38/hg38 22q11.23(chr22:23804407-24669609)x3]

GRCh38/hg38 22q11.23(chr22:23804407-24669609)x3

Genes:
  • ADORA2A-AS1:ADORA2A antisense RNA 1 [Gene - HGNC]
  • 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]
  • 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]
  • 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]
  • LOC125424396:Sharpr-MPRA regulatory region 1554 [Gene]
  • LOC125424397:Sharpr-MPRA regulatory region 3008 [Gene]
  • LOC125424398:Sharpr-MPRA regulatory region 3699 [Gene]
  • ADORA2A:adenosine A2a receptor [Gene - OMIM - HGNC]
  • UPB1:beta-ureidopropionase 1 [Gene - OMIM - HGNC]
  • CABIN1:calcineurin binding protein 1 [Gene - OMIM - HGNC]
  • DERL3:derlin 3 [Gene - OMIM - 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]
  • LRRC75B:leucine rich repeat containing 75B [Gene - HGNC]
  • MIF:macrophage migration inhibitory factor [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]
Variant type:
copy number gain
Cytogenetic location:
22q11.23
Genomic location:
Preferred name:
GRCh38/hg38 22q11.23(chr22:23804407-24669609)x3
HGVS:
  • NC_000022.11:g.(?_23804407)_(24669609_?)dup
  • NC_000022.10:g.(?_24146594)_(25065576_?)dup
  • NC_000022.9:g.(?_22476594)_(23395576_?)dup
Links:
dbVar: nssv583232; dbVar: nsv534609
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
SCV000177386ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Dec 22, 2010) 		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

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 1, SCV000177386.4

#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