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GRCh38/hg38 22q11.1-11.21(chr22:16916608-18179006)x4 AND See cases

Germline classification:
Pathogenic (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:
RCV000142570.6

Allele description [Variation Report for GRCh38/hg38 22q11.1-11.21(chr22:16916608-18179006)x4]

GRCh38/hg38 22q11.1-11.21(chr22:16916608-18179006)x4

Genes:
  • LOC130066890:ATAC-STARR-seq lymphoblastoid active region 18609 [Gene]
  • LOC130066891:ATAC-STARR-seq lymphoblastoid active region 18610 [Gene]
  • LOC130066897:ATAC-STARR-seq lymphoblastoid active region 18611 [Gene]
  • LOC130066900:ATAC-STARR-seq lymphoblastoid active region 18614 [Gene]
  • LOC130066901:ATAC-STARR-seq lymphoblastoid active region 18615 [Gene]
  • LOC130066902:ATAC-STARR-seq lymphoblastoid active region 18616 [Gene]
  • LOC130066903:ATAC-STARR-seq lymphoblastoid active region 18617 [Gene]
  • LOC130066904:ATAC-STARR-seq lymphoblastoid active region 18618 [Gene]
  • LOC130066905:ATAC-STARR-seq lymphoblastoid active region 18619 [Gene]
  • LOC130066907:ATAC-STARR-seq lymphoblastoid active region 18620 [Gene]
  • LOC130066908:ATAC-STARR-seq lymphoblastoid active region 18621 [Gene]
  • LOC130066911:ATAC-STARR-seq lymphoblastoid active region 18622 [Gene]
  • LOC130066912:ATAC-STARR-seq lymphoblastoid active region 18623 [Gene]
  • LOC130066913:ATAC-STARR-seq lymphoblastoid active region 18627 [Gene]
  • LOC130066914:ATAC-STARR-seq lymphoblastoid active region 18628 [Gene]
  • LOC130066915:ATAC-STARR-seq lymphoblastoid active region 18629 [Gene]
  • LOC130066916:ATAC-STARR-seq lymphoblastoid active region 18630 [Gene]
  • LOC130066917:ATAC-STARR-seq lymphoblastoid active region 18631 [Gene]
  • LOC130066918:ATAC-STARR-seq lymphoblastoid active region 18632 [Gene]
  • LOC130066923:ATAC-STARR-seq lymphoblastoid active region 18633 [Gene]
  • LOC130066924:ATAC-STARR-seq lymphoblastoid active region 18634 [Gene]
  • LOC130066925:ATAC-STARR-seq lymphoblastoid active region 18638 [Gene]
  • LOC130066926:ATAC-STARR-seq lymphoblastoid active region 18639 [Gene]
  • LOC130066927:ATAC-STARR-seq lymphoblastoid active region 18640 [Gene]
  • LOC130066928:ATAC-STARR-seq lymphoblastoid active region 18641 [Gene]
  • LOC130066929:ATAC-STARR-seq lymphoblastoid active region 18642 [Gene]
  • LOC130066930:ATAC-STARR-seq lymphoblastoid active region 18643 [Gene]
  • LOC130066931:ATAC-STARR-seq lymphoblastoid active region 18644 [Gene]
  • LOC130066935:ATAC-STARR-seq lymphoblastoid active region 18645 [Gene]
  • LOC130066936:ATAC-STARR-seq lymphoblastoid active region 18646 [Gene]
  • LOC130066938:ATAC-STARR-seq lymphoblastoid active region 18647 [Gene]
  • LOC130066939:ATAC-STARR-seq lymphoblastoid active region 18648 [Gene]
  • LOC130066941:ATAC-STARR-seq lymphoblastoid active region 18649 [Gene]
  • LOC130066942:ATAC-STARR-seq lymphoblastoid active region 18650 [Gene]
  • LOC130066943:ATAC-STARR-seq lymphoblastoid active region 18651 [Gene]
  • LOC130066944:ATAC-STARR-seq lymphoblastoid active region 18652 [Gene]
  • LOC130066946:ATAC-STARR-seq lymphoblastoid active region 18653 [Gene]
  • LOC130066947:ATAC-STARR-seq lymphoblastoid active region 18654 [Gene]
  • LOC130066888:ATAC-STARR-seq lymphoblastoid silent region 13426 [Gene]
  • LOC130066889:ATAC-STARR-seq lymphoblastoid silent region 13427 [Gene]
  • LOC130066892:ATAC-STARR-seq lymphoblastoid silent region 13428 [Gene]
  • LOC130066893:ATAC-STARR-seq lymphoblastoid silent region 13429 [Gene]
  • LOC130066894:ATAC-STARR-seq lymphoblastoid silent region 13430 [Gene]
  • LOC130066895:ATAC-STARR-seq lymphoblastoid silent region 13431 [Gene]
  • LOC130066896:ATAC-STARR-seq lymphoblastoid silent region 13432 [Gene]
  • LOC130066898:ATAC-STARR-seq lymphoblastoid silent region 13433 [Gene]
  • LOC130066899:ATAC-STARR-seq lymphoblastoid silent region 13434 [Gene]
  • LOC130066906:ATAC-STARR-seq lymphoblastoid silent region 13436 [Gene]
  • LOC130066909:ATAC-STARR-seq lymphoblastoid silent region 13437 [Gene]
  • LOC130066910:ATAC-STARR-seq lymphoblastoid silent region 13438 [Gene]
  • LOC130066919:ATAC-STARR-seq lymphoblastoid silent region 13439 [Gene]
  • LOC130066920:ATAC-STARR-seq lymphoblastoid silent region 13440 [Gene]
  • LOC130066921:ATAC-STARR-seq lymphoblastoid silent region 13441 [Gene]
  • LOC130066922:ATAC-STARR-seq lymphoblastoid silent region 13442 [Gene]
  • LOC130066932:ATAC-STARR-seq lymphoblastoid silent region 13443 [Gene]
  • LOC130066933:ATAC-STARR-seq lymphoblastoid silent region 13444 [Gene]
  • LOC130066934:ATAC-STARR-seq lymphoblastoid silent region 13446 [Gene]
  • LOC130066937:ATAC-STARR-seq lymphoblastoid silent region 13447 [Gene]
  • LOC130066940:ATAC-STARR-seq lymphoblastoid silent region 13448 [Gene]
  • LOC130066945:ATAC-STARR-seq lymphoblastoid silent region 13449 [Gene]
  • ATP6V1E1:ATPase H+ transporting V1 subunit E1 [Gene - OMIM - HGNC]
  • BCL2L13:BCL2 like 13 [Gene - OMIM - HGNC]
  • BID:BH3 interacting domain death agonist [Gene - OMIM - HGNC]
  • LOC126863096:BRD4-independent group 4 enhancer GRCh37_chr22:18552873-18554072 [Gene]
  • CECR2:CECR2 histone acetyl-lysine reader [Gene - OMIM - HGNC]
  • GAB4:GRB2 associated binding protein family member 4 [Gene - HGNC]
  • HDHD5-AS1:HDHD5 antisense RNA 1 [Gene - HGNC]
  • LOC126863094:MED14-independent group 3 enhancer GRCh37_chr22:17587847-17589046 [Gene]
  • LOC126863095:MED14-independent group 3 enhancer GRCh37_chr22:18286544-18287743 [Gene]
  • LOC129391259:MPRA-validated peak4440 silencer [Gene]
  • LOC129391260:MPRA-validated peak4447 silencer [Gene]
  • LOC129391261:MPRA-validated peak4449 silencer [Gene]
  • LOC132090620:Neanderthal introgressed variant-containing enhancer experimental_62188 [Gene]
  • LOC132090621:Neanderthal introgressed variant-containing enhancer experimental_62204 [Gene]
  • LOC132090622:Neanderthal introgressed variant-containing enhancer experimental_62270 [Gene]
  • LOC132090623:Neanderthal introgressed variant-containing enhancer experimental_62296 [Gene]
  • LOC132090624:Neanderthal introgressed variant-containing enhancer experimental_62410 [Gene]
  • LOC132090625:Neanderthal introgressed variant-containing enhancer experimental_62420 [Gene]
  • LOC132090626:Neanderthal introgressed variant-containing enhancer experimental_62431 [Gene]
  • LOC126863093:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:17413842-17415041 [Gene]
  • LOC121627928:Sharpr-MPRA regulatory region 13223 [Gene]
  • LOC125424380:Sharpr-MPRA regulatory region 13635 [Gene]
  • LOC125424384:Sharpr-MPRA regulatory region 15525 [Gene]
  • LOC125424381:Sharpr-MPRA regulatory region 614 [Gene]
  • LOC125424382:Sharpr-MPRA regulatory region 7571 [Gene]
  • LOC125424383:Sharpr-MPRA regulatory region 8921 [Gene]
  • LOC114827861:VISTA enhancer hs2543 [Gene]
  • ADA2:adenosine deaminase 2 [Gene - OMIM - HGNC]
  • CECR3:cat eye syndrome chromosome region, candidate 3 [Gene - HGNC]
  • CECR7:cat eye syndrome chromosome region, candidate 7 [Gene - HGNC]
  • FAM230D:family with sequence similarity 230 member D [Gene - HGNC]
  • HDHD5:haloacid dehalogenase like hydrolase domain containing 5 [Gene - HGNC]
  • IL17RA:interleukin 17 receptor A [Gene - OMIM - HGNC]
  • LINC01634:long intergenic non-protein coding RNA 1634 [Gene - HGNC]
  • LINC01664:long intergenic non-protein coding RNA 1664 [Gene - HGNC]
  • LINC00528:long intergenic non-protein coding RNA 528 [Gene - HGNC]
  • MIR3198-1:microRNA 3198-1 [Gene - HGNC]
  • MIR648:microRNA 648 [Gene - OMIM - HGNC]
  • MICAL3:microtubule associated monooxygenase, calponin and LIM domain containing 3 [Gene - OMIM - HGNC]
  • LOC106799832:nonconserved acetylation island sequence 73 enhancer [Gene]
  • LOC106799835:nonconserved acetylation island sequence 74 enhancer [Gene]
  • PEX26:peroxisomal biogenesis factor 26 [Gene - OMIM - HGNC]
  • SLC25A18:solute carrier family 25 member 18 [Gene - OMIM - HGNC]
  • TMEM121B:transmembrane protein 121B [Gene - HGNC]
  • TUBA8:tubulin alpha 8 [Gene - OMIM - HGNC]
  • USP18:ubiquitin specific peptidase 18 [Gene - OMIM - HGNC]
  • LOC101929372:uncharacterized LOC101929372 [Gene]
Variant type:
copy number gain
Cytogenetic location:
22q11.1-11.21
Genomic location:
Preferred name:
GRCh38/hg38 22q11.1-11.21(chr22:16916608-18179006)x4
HGVS:
  • NC_000022.11:g.(?_16916608)_(18179006_?)dup
  • NC_000022.10:g.(?_17397498)_(18661773_?)dup
  • NC_000022.9:g.(?_15777498)_(17041773_?)dup
Links:
dbVar: nssv582465; dbVar: nssv584391; dbVar: nssv584435; dbVar: nsv532466
Observations:
3

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
SCV000175718ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 22, 2010) 		unknown, 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
not providednot providedyes2not 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, SCV000175718.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
3not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided
2unknownyesnot providednot providedDiscovery1not providednot providednot provided
3de novoyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024