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GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3 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:
RCV000051961.5

Allele description [Variation Report for GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3]

GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3

Genes:
  • LOC130067002:ATAC-STARR-seq lymphoblastoid active region 18683 [Gene]
  • LOC130067004:ATAC-STARR-seq lymphoblastoid active region 18684 [Gene]
  • LOC130067005:ATAC-STARR-seq lymphoblastoid active region 18685 [Gene]
  • LOC130067006:ATAC-STARR-seq lymphoblastoid active region 18686 [Gene]
  • LOC130067007:ATAC-STARR-seq lymphoblastoid active region 18687 [Gene]
  • LOC130067009:ATAC-STARR-seq lymphoblastoid active region 18688 [Gene]
  • LOC130067011:ATAC-STARR-seq lymphoblastoid active region 18689 [Gene]
  • LOC130067012:ATAC-STARR-seq lymphoblastoid active region 18690 [Gene]
  • LOC130067013:ATAC-STARR-seq lymphoblastoid active region 18691 [Gene]
  • LOC130067014:ATAC-STARR-seq lymphoblastoid active region 18692 [Gene]
  • LOC130067015:ATAC-STARR-seq lymphoblastoid active region 18693 [Gene]
  • LOC130067017:ATAC-STARR-seq lymphoblastoid active region 18694 [Gene]
  • LOC130067020:ATAC-STARR-seq lymphoblastoid active region 18695 [Gene]
  • 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]
  • LOC130067001:ATAC-STARR-seq lymphoblastoid silent region 13497 [Gene]
  • LOC130067003:ATAC-STARR-seq lymphoblastoid silent region 13499 [Gene]
  • LOC130067008:ATAC-STARR-seq lymphoblastoid silent region 13500 [Gene]
  • LOC130067010:ATAC-STARR-seq lymphoblastoid silent region 13502 [Gene]
  • LOC130067016:ATAC-STARR-seq lymphoblastoid silent region 13504 [Gene]
  • LOC130067018:ATAC-STARR-seq lymphoblastoid silent region 13505 [Gene]
  • LOC130067019:ATAC-STARR-seq lymphoblastoid silent region 13506 [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]
  • LOC126863100:BRD4-independent group 4 enhancer GRCh37_chr22:22145734-22146933 [Gene]
  • LOC126863099:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:22064332-22065531 [Gene]
  • CRKL:CRK like proto-oncogene, adaptor protein [Gene - OMIM - HGNC]
  • TOP3B:DNA topoisomerase III beta [Gene - OMIM - HGNC]
  • HIC2:HIC ZBTB transcriptional repressor 2 [Gene - OMIM - HGNC]
  • LOC129391266:MPRA-validated peak4460 silencer [Gene]
  • LOC129391267:MPRA-validated peak4461 silencer [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]
  • RIMBP3B:RIMS binding protein 3B [Gene - OMIM - HGNC]
  • RIMBP3C:RIMS binding protein 3C [Gene - OMIM - HGNC]
  • LOC121627931:Sharpr-MPRA regulatory region 10319 [Gene]
  • LOC121627930:Sharpr-MPRA regulatory region 10582 [Gene]
  • 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]
  • LOC112694768:Sharpr-MPRA regulatory region 76 [Gene]
  • LOC112694767:Sharpr-MPRA regulatory region 818 [Gene]
  • THAP7:THAP domain containing 7 [Gene - OMIM - HGNC]
  • THAP7-AS1:THAP7 antisense RNA 1 [Gene - HGNC]
  • 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]
  • AIFM3:apoptosis inducing factor mitochondria associated 3 [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]
  • IGLV1-47: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]
  • IGLV4-60:immunoglobulin lambda variable 4-60 [Gene - HGNC]
  • IGLV4-69:immunoglobulin lambda variable 4-69 [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]
  • IGLV8-61:immunoglobulin lambda variable 8-61 [Gene - HGNC]
  • IGLV9-49:immunoglobulin lambda variable 9-49 [Gene - HGNC]
  • LRRC74B:leucine rich repeat containing 74B [Gene - HGNC]
  • LZTR1:leucine zipper like post translational regulator 1 [Gene - OMIM - HGNC]
  • LINC01637:long intergenic non-protein coding RNA 1637 [Gene - HGNC]
  • LINC01651:long intergenic non-protein coding RNA 1651 [Gene - HGNC]
  • MIR130B:microRNA 130b [Gene - OMIM - HGNC]
  • MIR301B:microRNA 301b [Gene - HGNC]
  • MIR649:microRNA 649 [Gene - HGNC]
  • MAPK1:mitogen-activated protein kinase 1 [Gene - OMIM - HGNC]
  • PPIL2:peptidylprolyl isomerase like 2 [Gene - OMIM - HGNC]
  • PI4KA:phosphatidylinositol 4-kinase alpha [Gene - OMIM - HGNC]
  • PPM1F:protein phosphatase, Mg2+/Mn2+ dependent 1F [Gene - OMIM - HGNC]
  • P2RX6:purinergic receptor P2X 6 [Gene - OMIM - HGNC]
  • SERPIND1:serpin family D member 1 [Gene - OMIM - HGNC]
  • SLC7A4:solute carrier family 7 member 4 [Gene - OMIM - HGNC]
  • SDF2L1:stromal cell derived factor 2 like 1 [Gene - OMIM - HGNC]
  • SNAP29:synaptosome associated protein 29 [Gene - OMIM - HGNC]
  • TMEM191C:transmembrane protein 191C [Gene - HGNC]
  • UBE2L3:ubiquitin conjugating enzyme E2 L3 [Gene - OMIM - HGNC]
  • YPEL1:yippee like 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
22q11.21-11.22
Genomic location:
Preferred name:
GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3
HGVS:
  • NC_000022.11:g.(?_20668552)_(22358488_?)dup
  • NC_000022.10:g.(?_21022840)_(22712836_?)dup
  • NC_000022.9:g.(?_19352840)_(21042836_?)dup
Links:
dbVar: nssv577095; dbVar: nsv530674
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
SCV000079310GeneDx
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 GeneDx, SCV000079310.5

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

Last Updated: Oct 14, 2023