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GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1 AND See cases

Germline classification:
Pathogenic (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:
RCV000053087.6

Allele description [Variation Report for GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1]

GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)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]
  • LOC130067057:ATAC-STARR-seq lymphoblastoid active region 18724 [Gene]
  • LOC130067058:ATAC-STARR-seq lymphoblastoid active region 18725 [Gene]
  • LOC130067059:ATAC-STARR-seq lymphoblastoid active region 18726 [Gene]
  • LOC130067060:ATAC-STARR-seq lymphoblastoid active region 18727 [Gene]
  • LOC130067061:ATAC-STARR-seq lymphoblastoid active region 18728 [Gene]
  • LOC130067062:ATAC-STARR-seq lymphoblastoid active region 18729 [Gene]
  • LOC130067063:ATAC-STARR-seq lymphoblastoid active region 18730 [Gene]
  • LOC130067065:ATAC-STARR-seq lymphoblastoid active region 18731 [Gene]
  • LOC130067066:ATAC-STARR-seq lymphoblastoid active region 18732 [Gene]
  • LOC130067067:ATAC-STARR-seq lymphoblastoid active region 18733 [Gene]
  • LOC130067068:ATAC-STARR-seq lymphoblastoid active region 18734 [Gene]
  • LOC130067069:ATAC-STARR-seq lymphoblastoid active region 18735 [Gene]
  • LOC130067070:ATAC-STARR-seq lymphoblastoid active region 18736 [Gene]
  • LOC130067071:ATAC-STARR-seq lymphoblastoid active region 18737 [Gene]
  • LOC130067073:ATAC-STARR-seq lymphoblastoid active region 18738 [Gene]
  • LOC130067074:ATAC-STARR-seq lymphoblastoid active region 18739 [Gene]
  • LOC130067075:ATAC-STARR-seq lymphoblastoid active region 18740 [Gene]
  • LOC130067076:ATAC-STARR-seq lymphoblastoid active region 18741 [Gene]
  • LOC130067078:ATAC-STARR-seq lymphoblastoid active region 18742 [Gene]
  • LOC130067079:ATAC-STARR-seq lymphoblastoid active region 18743 [Gene]
  • LOC130067080:ATAC-STARR-seq lymphoblastoid active region 18744 [Gene]
  • LOC130067083:ATAC-STARR-seq lymphoblastoid active region 18746 [Gene]
  • LOC130067084:ATAC-STARR-seq lymphoblastoid active region 18747 [Gene]
  • LOC130067086:ATAC-STARR-seq lymphoblastoid active region 18748 [Gene]
  • LOC130067087:ATAC-STARR-seq lymphoblastoid active region 18749 [Gene]
  • LOC129929043:ATAC-STARR-seq lymphoblastoid active region 18750 [Gene]
  • LOC129869693:ATAC-STARR-seq lymphoblastoid active region 18751 [Gene]
  • LOC130067092:ATAC-STARR-seq lymphoblastoid active region 18753 [Gene]
  • LOC129929044:ATAC-STARR-seq lymphoblastoid active region 18754 [Gene]
  • 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]
  • 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]
  • LOC130067064:ATAC-STARR-seq lymphoblastoid silent region 13527 [Gene]
  • LOC130067072:ATAC-STARR-seq lymphoblastoid silent region 13528 [Gene]
  • LOC130067077:ATAC-STARR-seq lymphoblastoid silent region 13529 [Gene]
  • LOC130067081:ATAC-STARR-seq lymphoblastoid silent region 13530 [Gene]
  • LOC130067082:ATAC-STARR-seq lymphoblastoid silent region 13531 [Gene]
  • LOC130067085:ATAC-STARR-seq lymphoblastoid silent region 13532 [Gene]
  • LOC130067088:ATAC-STARR-seq lymphoblastoid silent region 13533 [Gene]
  • LOC130067089:ATAC-STARR-seq lymphoblastoid silent region 13534 [Gene]
  • LOC130067090:ATAC-STARR-seq lymphoblastoid silent region 13535 [Gene]
  • LOC130067091:ATAC-STARR-seq lymphoblastoid silent region 13536 [Gene]
  • LOC129869694:ATAC-STARR-seq lymphoblastoid silent region 13538 [Gene]
  • LOC130067093:ATAC-STARR-seq lymphoblastoid silent region 13540 [Gene]
  • LOC130067096:ATAC-STARR-seq lymphoblastoid silent region 13543 [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]
  • LOC107963951:BCR-ABL minor-breakpoint cluster region [Gene]
  • LOC107966121:BCR-ABL p195 breakpoint cluster region [Gene]
  • LOC107963947:BCR-ABL p200 breakpoint cluster region [Gene]
  • LOC107966125:BCR-ABL p225 breakpoint cluster region [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]
  • DDTL:D-dopachrome tautomerase like [Gene - HGNC]
  • DDT:D-dopachrome tautomerase [Gene - OMIM - HGNC]
  • TOP3B:DNA topoisomerase III beta [Gene - OMIM - HGNC]
  • GNAZ:G protein subunit alpha z [Gene - OMIM - HGNC]
  • LOC108491837:IGL region enhancer-blocking element 22-2 [Gene]
  • MIF-AS1:MIF antisense RNA 1 [Gene - HGNC]
  • LOC129391270:MPRA-validated peak4465 silencer [Gene]
  • LOC129391271:MPRA-validated peak4466 silencer [Gene]
  • LOC129391272:MPRA-validated peak4467 silencer [Gene]
  • LOC129391273:MPRA-validated peak4472 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]
  • RAB36:RAB36, member RAS oncogene family [Gene - OMIM - HGNC]
  • LOC108491832:RAB36-BCR intergenic enhancer-blocking element 22-1 [Gene]
  • RIMBP3C:RIMS binding protein 3C [Gene - OMIM - 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]
  • LOC125424389:Sharpr-MPRA regulatory region 10827 [Gene]
  • LOC121627932:Sharpr-MPRA regulatory region 14215 [Gene]
  • LOC121627933:Sharpr-MPRA regulatory region 15419 [Gene]
  • LOC125424390:Sharpr-MPRA regulatory region 1853 [Gene]
  • LOC125424395:Sharpr-MPRA regulatory region 3793 [Gene]
  • LOC125424393:Sharpr-MPRA regulatory region 4313 [Gene]
  • LOC121853036:Sharpr-MPRA regulatory region 5876 [Gene]
  • LOC125424391:Sharpr-MPRA regulatory region 5890 [Gene]
  • LOC125424392:Sharpr-MPRA regulatory region 7390 [Gene]
  • LOC121853035:Sharpr-MPRA regulatory region 7478 [Gene]
  • LOC112694768:Sharpr-MPRA regulatory region 76 [Gene]
  • LOC125424394:Sharpr-MPRA regulatory region 8041 [Gene]
  • LOC111828506:Sharpr-MPRA regulatory regions 962 and 2236 [Gene]
  • VPREB1:V-set pre-B cell surrogate light chain 1 [Gene - OMIM - HGNC]
  • VPREB3:V-set pre-B cell surrogate light chain 3 [Gene - OMIM - HGNC]
  • LOC110121474:VISTA enhancer hs2026 [Gene]
  • YDJC:YdjC chitooligosaccharide deacetylase homolog [Gene - OMIM - HGNC]
  • DRICH1:aspartate rich 1 [Gene - HGNC]
  • CABIN1:calcineurin binding protein 1 [Gene - OMIM - HGNC]
  • C22orf15:chromosome 22 open reading frame 15 [Gene - HGNC]
  • CCDC116:coiled-coil domain containing 116 [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]
  • GGT5:gamma-glutamyltransferase 5 [Gene - OMIM - HGNC]
  • GGTLC2:gamma-glutamyltransferase light chain 2 [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]
  • IGLC1:immunoglobulin lambda constant 1 [Gene - OMIM - HGNC]
  • IGLC2:immunoglobulin lambda constant 2 [Gene - HGNC]
  • IGLC3:immunoglobulin lambda constant 3 (Kern-Oz+ marker) [Gene - HGNC]
  • IGLC7:immunoglobulin lambda constant 7 [Gene - HGNC]
  • IGLJ1:immunoglobulin lambda joining 1 [Gene - HGNC]
  • IGLJ2:immunoglobulin lambda joining 2 [Gene - HGNC]
  • IGLJ3:immunoglobulin lambda joining 3 [Gene - HGNC]
  • IGLJ4:immunoglobulin lambda joining 4 (non-functional) [Gene - HGNC]
  • IGLJ5:immunoglobulin lambda joining 5 (non-functional) [Gene - HGNC]
  • IGLJ6:immunoglobulin lambda joining 6 [Gene - HGNC]
  • IGLJ7:immunoglobulin lambda joining 7 [Gene - HGNC]
  • IGLL1:immunoglobulin lambda like polypeptide 1 [Gene - OMIM - HGNC]
  • IGLL5:immunoglobulin lambda like polypeptide 5 [Gene - 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]
  • IGLV2-11:immunoglobulin lambda variable 2-11 [Gene - HGNC]
  • IGLV2-14:immunoglobulin lambda variable 2-14 [Gene - HGNC]
  • IGLV2-18:immunoglobulin lambda variable 2-18 [Gene - HGNC]
  • IGLV2-23:immunoglobulin lambda variable 2-23 [Gene - HGNC]
  • IGLV2-33:immunoglobulin lambda variable 2-33 (non-functional) [Gene - HGNC]
  • IGLV2-8:immunoglobulin lambda variable 2-8 [Gene - HGNC]
  • IGLV3-10:immunoglobulin lambda variable 3-10 [Gene - HGNC]
  • IGLV3-12:immunoglobulin lambda variable 3-12 [Gene - HGNC]
  • IGLV3-16:immunoglobulin lambda variable 3-16 [Gene - HGNC]
  • IGLV3-19:immunoglobulin lambda variable 3-19 [Gene - HGNC]
  • IGLV3-1:immunoglobulin lambda variable 3-1 [Gene - HGNC]
  • IGLV3-21:immunoglobulin lambda variable 3-21 [Gene - HGNC]
  • IGLV3-22:immunoglobulin lambda variable 3-22 [Gene - HGNC]
  • IGLV3-25:immunoglobulin lambda variable 3-25 [Gene - HGNC]
  • IGLV3-27:immunoglobulin lambda variable 3-27 [Gene - HGNC]
  • IGLV3-32:immunoglobulin lambda variable 3-32 (non-functional) [Gene - HGNC]
  • IGLV3-9:immunoglobulin lambda variable 3-9 [Gene - HGNC]
  • IGLV4-3:immunoglobulin lambda variable 4-3 [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]
  • 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]
  • MIR130B:microRNA 130b [Gene - OMIM - HGNC]
  • MIR301B:microRNA 301b [Gene - HGNC]
  • MIR5571:microRNA 5571 [Gene - HGNC]
  • MIR650:microRNA 650 [Gene - OMIM - HGNC]
  • MAPK1:mitogen-activated protein kinase 1 [Gene - OMIM - HGNC]
  • PPIL2:peptidylprolyl isomerase like 2 [Gene - OMIM - HGNC]
  • PCAT14:prostate cancer associated transcript 14 [Gene - HGNC]
  • PPM1F:protein phosphatase, Mg2+/Mn2+ dependent 1F [Gene - OMIM - HGNC]
  • RSPH14:radial spoke head 14 homolog [Gene - OMIM - 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]
  • SLC2A11:solute carrier family 2 member 11 [Gene - OMIM - HGNC]
  • SDF2L1:stromal cell derived factor 2 like 1 [Gene - OMIM - HGNC]
  • SUSD2:sushi domain containing 2 [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]
  • ZNF70:zinc finger protein 70 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
22q11.21-11.23
Genomic location:
Preferred name:
GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1
HGVS:
  • NC_000022.11:g.(?_21457690)_(24220231_?)del
  • NC_000022.10:g.(?_21811979)_(24616199_?)del
  • NC_000022.9:g.(?_20141979)_(22946199_?)del
Links:
dbVar: nssv580080; dbVar: nsv531777
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
SCV000080442ISCA Site 6

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		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

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, SCV000080442.4

#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