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GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 13, 2012
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:
RCV000137494.5

Allele description [Variation Report for GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x1]

GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x1

Genes:
  • LOC130067023:ATAC-STARR-seq lymphoblastoid active region 18698 [Gene]
  • LOC130067029:ATAC-STARR-seq lymphoblastoid active region 18702 [Gene]
  • LOC130067030:ATAC-STARR-seq lymphoblastoid active region 18703 [Gene]
  • LOC130067031:ATAC-STARR-seq lymphoblastoid active region 18704 [Gene]
  • LOC130067034:ATAC-STARR-seq lymphoblastoid active region 18705 [Gene]
  • LOC130067035:ATAC-STARR-seq lymphoblastoid active region 18706 [Gene]
  • LOC130067036:ATAC-STARR-seq lymphoblastoid active region 18707 [Gene]
  • LOC130067037:ATAC-STARR-seq lymphoblastoid active region 18708 [Gene]
  • LOC130067038:ATAC-STARR-seq lymphoblastoid active region 18709 [Gene]
  • LOC130067039:ATAC-STARR-seq lymphoblastoid active region 18710 [Gene]
  • LOC130067041:ATAC-STARR-seq lymphoblastoid active region 18712 [Gene]
  • LOC130067043:ATAC-STARR-seq lymphoblastoid active region 18713 [Gene]
  • LOC130067045:ATAC-STARR-seq lymphoblastoid active region 18714 [Gene]
  • LOC130067046:ATAC-STARR-seq lymphoblastoid active region 18715 [Gene]
  • LOC130067047:ATAC-STARR-seq lymphoblastoid active region 18719 [Gene]
  • LOC130067048:ATAC-STARR-seq lymphoblastoid active region 18720 [Gene]
  • LOC130067050:ATAC-STARR-seq lymphoblastoid active region 18721 [Gene]
  • LOC130067051:ATAC-STARR-seq lymphoblastoid active region 18722 [Gene]
  • LOC130067052:ATAC-STARR-seq lymphoblastoid active region 18723 [Gene]
  • LOC130067021:ATAC-STARR-seq lymphoblastoid silent region 13507 [Gene]
  • LOC130067022:ATAC-STARR-seq lymphoblastoid silent region 13508 [Gene]
  • LOC130067024:ATAC-STARR-seq lymphoblastoid silent region 13509 [Gene]
  • LOC130067025:ATAC-STARR-seq lymphoblastoid silent region 13510 [Gene]
  • LOC130067026:ATAC-STARR-seq lymphoblastoid silent region 13511 [Gene]
  • LOC130067027:ATAC-STARR-seq lymphoblastoid silent region 13512 [Gene]
  • LOC130067028:ATAC-STARR-seq lymphoblastoid silent region 13513 [Gene]
  • LOC130067032:ATAC-STARR-seq lymphoblastoid silent region 13514 [Gene]
  • LOC130067033:ATAC-STARR-seq lymphoblastoid silent region 13515 [Gene]
  • LOC130067040:ATAC-STARR-seq lymphoblastoid silent region 13517 [Gene]
  • LOC130067042:ATAC-STARR-seq lymphoblastoid silent region 13519 [Gene]
  • LOC130067044:ATAC-STARR-seq lymphoblastoid silent region 13520 [Gene]
  • LOC130067049:ATAC-STARR-seq lymphoblastoid silent region 13522 [Gene]
  • LOC130067053:ATAC-STARR-seq lymphoblastoid silent region 13523 [Gene]
  • LOC130067054:ATAC-STARR-seq lymphoblastoid silent region 13524 [Gene]
  • LOC130067055:ATAC-STARR-seq lymphoblastoid silent region 13525 [Gene]
  • LOC130067056:ATAC-STARR-seq lymphoblastoid silent region 13526 [Gene]
  • LOC126863100:BRD4-independent group 4 enhancer GRCh37_chr22:22145734-22146933 [Gene]
  • LOC126863101:BRD4-independent group 4 enhancer GRCh37_chr22:22874253-22875452 [Gene]
  • LOC126863099:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:22064332-22065531 [Gene]
  • TOP3B:DNA topoisomerase III beta [Gene - OMIM - HGNC]
  • HIC2:HIC ZBTB transcriptional repressor 2 [Gene - OMIM - HGNC]
  • LOC108491837:IGL region enhancer-blocking element 22-2 [Gene]
  • LOC129391268:MPRA-validated peak4462 silencer [Gene]
  • LOC129391269:MPRA-validated peak4464 silencer [Gene]
  • LOC129391270:MPRA-validated peak4465 silencer [Gene]
  • LOC129391271:MPRA-validated peak4466 silencer [Gene]
  • LOC129391272:MPRA-validated peak4467 silencer [Gene]
  • LOC132090639:Neanderthal introgressed variant-containing enhancer experimental_63007 [Gene]
  • LOC132090640:Neanderthal introgressed variant-containing enhancer experimental_63076 [Gene]
  • LOC132090641:Neanderthal introgressed variant-containing enhancer experimental_63111 [Gene]
  • PPM1F-AS1:PPM1F antisense RNA 1 [Gene - HGNC]
  • PRAME:PRAME nuclear receptor transcriptional regulator [Gene - OMIM - HGNC]
  • RIMBP3B:RIMS binding protein 3B [Gene - OMIM - HGNC]
  • RIMBP3C:RIMS binding protein 3C [Gene - OMIM - HGNC]
  • LOC125424389:Sharpr-MPRA regulatory region 10827 [Gene]
  • LOC121627932:Sharpr-MPRA regulatory region 14215 [Gene]
  • LOC125424390:Sharpr-MPRA regulatory region 1853 [Gene]
  • LOC125424391:Sharpr-MPRA regulatory region 5890 [Gene]
  • LOC125424392:Sharpr-MPRA regulatory region 7390 [Gene]
  • LOC112694768:Sharpr-MPRA regulatory region 76 [Gene]
  • VPREB1:V-set pre-B cell surrogate light chain 1 [Gene - OMIM - HGNC]
  • LOC110121474:VISTA enhancer hs2026 [Gene]
  • YDJC:YdjC chitooligosaccharide deacetylase homolog [Gene - OMIM - HGNC]
  • CCDC116:coiled-coil domain containing 116 [Gene - HGNC]
  • FAM230B:family with sequence similarity 230 member B [Gene - HGNC]
  • FAM230H:family with sequence similarity 230 member H [Gene - HGNC]
  • FAM246A:family with sequence similarity 246 member A [Gene - HGNC]
  • FAM247A:family with sequence similarity 247 member A [Gene - HGNC]
  • GGT2:gamma-glutamyltransferase 2 [Gene - OMIM - HGNC]
  • IGL:immunoglobulin lambda locus [Gene - HGNC]
  • IGLV1-36:immunoglobulin lambda variable 1-36 [Gene - HGNC]
  • IGLV1-40:immunoglobulin lambda variable 1-40 [Gene - HGNC]
  • IGLV1-44:immunoglobulin lambda variable 1-44 [Gene - HGNC]
  • IGLV1-47:immunoglobulin lambda variable 1-47 [Gene - HGNC]
  • IGLV1-50:immunoglobulin lambda variable 1-50 (non-functional) [Gene - HGNC]
  • IGLV1-51:immunoglobulin lambda variable 1-51 [Gene - HGNC]
  • IGLV10-54:immunoglobulin lambda variable 10-54 [Gene - HGNC]
  • IGLV11-55:immunoglobulin lambda variable 11-55 (non-functional) [Gene - HGNC]
  • IGLV2-33:immunoglobulin lambda variable 2-33 (non-functional) [Gene - HGNC]
  • IGLV3-32:immunoglobulin lambda variable 3-32 (non-functional) [Gene - HGNC]
  • IGLV4-60:immunoglobulin lambda variable 4-60 [Gene - HGNC]
  • IGLV4-69:immunoglobulin lambda variable 4-69 [Gene - HGNC]
  • IGLV5-37:immunoglobulin lambda variable 5-37 [Gene - HGNC]
  • IGLV5-45:immunoglobulin lambda variable 5-45 [Gene - HGNC]
  • IGLV5-48:immunoglobulin lambda variable 5-48 (non-functional) [Gene - HGNC]
  • IGLV5-52:immunoglobulin lambda variable 5-52 [Gene - HGNC]
  • IGLV6-57:immunoglobulin lambda variable 6-57 [Gene - HGNC]
  • IGLV7-43:immunoglobulin lambda variable 7-43 [Gene - HGNC]
  • IGLV7-46:immunoglobulin lambda variable 7-46 [Gene - HGNC]
  • IGLV8-61:immunoglobulin lambda variable 8-61 [Gene - HGNC]
  • IGLV9-49:immunoglobulin lambda variable 9-49 [Gene - HGNC]
  • LINC01651:long intergenic non-protein coding RNA 1651 [Gene - HGNC]
  • MIR130B:microRNA 130b [Gene - OMIM - HGNC]
  • MIR301B:microRNA 301b [Gene - HGNC]
  • MAPK1:mitogen-activated protein kinase 1 [Gene - OMIM - HGNC]
  • PPIL2:peptidylprolyl isomerase like 2 [Gene - OMIM - HGNC]
  • PPM1F:protein phosphatase, Mg2+/Mn2+ dependent 1F [Gene - OMIM - HGNC]
  • SDF2L1:stromal cell derived factor 2 like 1 [Gene - OMIM - HGNC]
  • TMEM191C:transmembrane protein 191C [Gene - HGNC]
  • UBE2L3:ubiquitin conjugating enzyme E2 L3 [Gene - OMIM - HGNC]
  • LL22NC03-63E9.3:uncharacterized LOC648691 [Gene]
  • YPEL1:yippee like 1 [Gene - OMIM - HGNC]
  • ZNF280A:zinc finger protein 280A [Gene - HGNC]
  • ZNF280B:zinc finger protein 280B [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
22q11.21-11.22
Genomic location:
Preferred name:
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x1
HGVS:
  • NC_000022.11:g.(?_21151069)_(22617194_?)del
  • NC_000022.10:g.(?_21505358)_(22959664_?)del
  • NC_000022.9:g.(?_19835358)_(21289664_?)del
Links:
dbVar: nssv1605219; dbVar: nsv817429
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
SCV000177719ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Aug 13, 2012) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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, SCV000177719.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024