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GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 14, 2011
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:
RCV000133785.5

Allele description

GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3

Genes:
  • ARVCF:ARVCF delta catenin family member [Gene - OMIM - HGNC]
  • 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]
  • LOC130066953:ATAC-STARR-seq lymphoblastoid active region 18658 [Gene]
  • LOC130066957:ATAC-STARR-seq lymphoblastoid active region 18660 [Gene]
  • LOC130066959:ATAC-STARR-seq lymphoblastoid active region 18663 [Gene]
  • LOC130066963:ATAC-STARR-seq lymphoblastoid active region 18664 [Gene]
  • LOC130066964:ATAC-STARR-seq lymphoblastoid active region 18665 [Gene]
  • LOC130066968:ATAC-STARR-seq lymphoblastoid active region 18666 [Gene]
  • LOC130066969:ATAC-STARR-seq lymphoblastoid active region 18667 [Gene]
  • LOC130066970:ATAC-STARR-seq lymphoblastoid active region 18668 [Gene]
  • LOC130066971:ATAC-STARR-seq lymphoblastoid active region 18669 [Gene]
  • LOC130066973:ATAC-STARR-seq lymphoblastoid active region 18670 [Gene]
  • LOC130066977:ATAC-STARR-seq lymphoblastoid active region 18671 [Gene]
  • LOC130066982:ATAC-STARR-seq lymphoblastoid active region 18672 [Gene]
  • LOC130066984:ATAC-STARR-seq lymphoblastoid active region 18673 [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]
  • LOC130066948:ATAC-STARR-seq lymphoblastoid silent region 13450 [Gene]
  • LOC130066949:ATAC-STARR-seq lymphoblastoid silent region 13451 [Gene]
  • LOC130066950:ATAC-STARR-seq lymphoblastoid silent region 13452 [Gene]
  • LOC130066951:ATAC-STARR-seq lymphoblastoid silent region 13454 [Gene]
  • LOC130066952:ATAC-STARR-seq lymphoblastoid silent region 13457 [Gene]
  • LOC130066954:ATAC-STARR-seq lymphoblastoid silent region 13459 [Gene]
  • LOC130066955:ATAC-STARR-seq lymphoblastoid silent region 13460 [Gene]
  • LOC130066956:ATAC-STARR-seq lymphoblastoid silent region 13462 [Gene]
  • LOC130066958:ATAC-STARR-seq lymphoblastoid silent region 13463 [Gene]
  • LOC130066960:ATAC-STARR-seq lymphoblastoid silent region 13467 [Gene]
  • LOC130066961:ATAC-STARR-seq lymphoblastoid silent region 13468 [Gene]
  • LOC130066962:ATAC-STARR-seq lymphoblastoid silent region 13469 [Gene]
  • LOC130066965:ATAC-STARR-seq lymphoblastoid silent region 13470 [Gene]
  • LOC130066966:ATAC-STARR-seq lymphoblastoid silent region 13471 [Gene]
  • LOC130066967:ATAC-STARR-seq lymphoblastoid silent region 13472 [Gene]
  • LOC130066972:ATAC-STARR-seq lymphoblastoid silent region 13473 [Gene]
  • LOC130066974:ATAC-STARR-seq lymphoblastoid silent region 13474 [Gene]
  • LOC130066975:ATAC-STARR-seq lymphoblastoid silent region 13475 [Gene]
  • LOC130066976:ATAC-STARR-seq lymphoblastoid silent region 13476 [Gene]
  • LOC130066978:ATAC-STARR-seq lymphoblastoid silent region 13477 [Gene]
  • LOC130066979:ATAC-STARR-seq lymphoblastoid silent region 13478 [Gene]
  • LOC130066980:ATAC-STARR-seq lymphoblastoid silent region 13481 [Gene]
  • LOC130066981:ATAC-STARR-seq lymphoblastoid silent region 13482 [Gene]
  • LOC130066983:ATAC-STARR-seq lymphoblastoid silent region 13484 [Gene]
  • LOC130066985:ATAC-STARR-seq lymphoblastoid silent region 13485 [Gene]
  • LOC130066986:ATAC-STARR-seq lymphoblastoid silent region 13486 [Gene]
  • LOC130066987:ATAC-STARR-seq lymphoblastoid silent region 13487 [Gene]
  • LOC130066988:ATAC-STARR-seq lymphoblastoid silent region 13488 [Gene]
  • LOC130066989:ATAC-STARR-seq lymphoblastoid silent region 13489 [Gene]
  • LOC130066990:ATAC-STARR-seq lymphoblastoid silent region 13490 [Gene]
  • LOC130066991:ATAC-STARR-seq lymphoblastoid silent region 13491 [Gene]
  • LOC130066992:ATAC-STARR-seq lymphoblastoid silent region 13492 [Gene]
  • LOC130066993:ATAC-STARR-seq lymphoblastoid silent region 13493 [Gene]
  • LOC130066994:ATAC-STARR-seq lymphoblastoid silent region 13494 [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]
  • LOC126863097:BRD4-independent group 4 enhancer GRCh37_chr22:19220751-19221950 [Gene]
  • LOC126863098:BRD4-independent group 4 enhancer GRCh37_chr22:19894389-19895588 [Gene]
  • CECR2:CECR2 histone acetyl-lysine reader [Gene - OMIM - HGNC]
  • LOC116309126:CRISPRi-validated cis-regulatory element chr22.250 [Gene]
  • LOC116309127:CRISPRi-validated cis-regulatory element chr22.431 [Gene]
  • DGCR8:DGCR8 microprocessor complex subunit [Gene - OMIM - HGNC]
  • DGCR11:DiGeorge syndrome critical region gene 11 [Gene - HGNC]
  • DGCR2:DiGeorge syndrome critical region gene 2 [Gene - OMIM - HGNC]
  • DGCR5:DiGeorge syndrome critical region gene 5 [Gene - OMIM - HGNC]
  • DGCR6L:DiGeorge syndrome critical region gene 6 like [Gene - OMIM - HGNC]
  • DGCR6:DiGeorge syndrome critical region gene 6 [Gene - OMIM - HGNC]
  • GNB1L:G protein subunit beta 1 like [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]
  • LOC129391263:MPRA-validated peak4453 silencer [Gene]
  • LOC129391262:MPRA-validated peak4455 silencer [Gene]
  • LOC129391264:MPRA-validated peak4456 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]
  • LOC132090627:Neanderthal introgressed variant-containing enhancer experimental_62558 [Gene]
  • LOC126863093:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:17413842-17415041 [Gene]
  • RANBP1:RAN binding protein 1 [Gene - OMIM - HGNC]
  • RIMBP3:RIMS binding protein 3 [Gene - OMIM - HGNC]
  • SEPT5-GP1BB:SEPT5-GP1BB readthrough [Gene]
  • LOC112694764:Sharpr-MPRA regulatory region 10527 [Gene]
  • LOC125424387:Sharpr-MPRA regulatory region 11316 [Gene]
  • LOC114004361:Sharpr-MPRA regulatory region 11686 [Gene]
  • LOC121627928:Sharpr-MPRA regulatory region 13223 [Gene]
  • LOC125424380:Sharpr-MPRA regulatory region 13635 [Gene]
  • LOC121627929:Sharpr-MPRA regulatory region 13949 [Gene]
  • LOC125424386:Sharpr-MPRA regulatory region 15144 [Gene]
  • LOC125424384:Sharpr-MPRA regulatory region 15525 [Gene]
  • LOC112694766:Sharpr-MPRA regulatory region 2516 [Gene]
  • LOC125424381:Sharpr-MPRA regulatory region 614 [Gene]
  • LOC125424382:Sharpr-MPRA regulatory region 7571 [Gene]
  • LOC125424383:Sharpr-MPRA regulatory region 8921 [Gene]
  • LOC125424388:Sharpr-MPRA regulatory region 9836 [Gene]
  • TBX1:T-box transcription factor 1 [Gene - OMIM - HGNC]
  • UFD1-AS1:UFD1 antisense RNA 1 [Gene - HGNC]
  • LOC114827861:VISTA enhancer hs2543 [Gene]
  • LOC110120888:VISTA enhancer hs515 [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]
  • COMT:catechol-O-methyltransferase [Gene - OMIM - HGNC]
  • CDC45:cell division cycle 45 [Gene - OMIM - HGNC]
  • C22orf39:chromosome 22 open reading frame 39 [Gene - HGNC]
  • CLTCL1:clathrin heavy chain like 1 [Gene - OMIM - HGNC]
  • CLDN5:claudin 5 [Gene - OMIM - HGNC]
  • CCDC188:coiled-coil domain containing 188 [Gene - HGNC]
  • LOC108510655:enhancer-blocking element 22-3 upstream of CCDC188 [Gene]
  • ESS2:ess-2 splicing factor homolog [Gene - OMIM - HGNC]
  • FAM230A:family with sequence similarity 230 member A [Gene - HGNC]
  • FAM230D:family with sequence similarity 230 member D [Gene - HGNC]
  • FAM230E:family with sequence similarity 230 member E [Gene - HGNC]
  • FAM230F:family with sequence similarity 230 member F [Gene - HGNC]
  • FAM230G:family with sequence similarity 230 member G [Gene - HGNC]
  • FAM230J:family with sequence similarity 230 member J [Gene - HGNC]
  • FAM246B:family with sequence similarity 246 member B [Gene - HGNC]
  • FAM246C:family with sequence similarity 246 member C (gene/pseudogene) [Gene - HGNC]
  • FAM247B:family with sequence similarity 247 member B [Gene - HGNC]
  • GGTLC3:gamma-glutamyltransferase light chain family member 3 [Gene - OMIM - HGNC]
  • GP1BB:glycoprotein Ib platelet subunit beta [Gene - OMIM - HGNC]
  • GSC2:goosecoid homeobox 2 [Gene - OMIM - HGNC]
  • HDHD5:haloacid dehalogenase like hydrolase domain containing 5 [Gene - HGNC]
  • HIRA:histone cell cycle regulator [Gene - OMIM - HGNC]
  • HSERVPRODH:human-specific endogenous retroviral insert PRODH enhancer [Gene]
  • IL17RA:interleukin 17 receptor A [Gene - OMIM - HGNC]
  • LINC01311:long intergenic non-protein coding RNA 1311 [Gene - HGNC]
  • LINC01634:long intergenic non-protein coding RNA 1634 [Gene - HGNC]
  • LINC01664:long intergenic non-protein coding RNA 1664 [Gene - HGNC]
  • LINC02891:long intergenic non-protein coding RNA 2891 [Gene - HGNC]
  • LINC00528:long intergenic non-protein coding RNA 528 [Gene - HGNC]
  • LINC00895:long intergenic non-protein coding RNA 895 [Gene - HGNC]
  • LINC00896:long intergenic non-protein coding RNA 896 [Gene - HGNC]
  • MIR1286:microRNA 1286 [Gene - HGNC]
  • MIR1306:microRNA 1306 [Gene - HGNC]
  • MIR185:microRNA 185 [Gene - OMIM - HGNC]
  • MIR3198-1:microRNA 3198-1 [Gene - HGNC]
  • MIR3618:microRNA 3618 [Gene - HGNC]
  • MIR4761:microRNA 4761 [Gene - HGNC]
  • MIR648:microRNA 648 [Gene - OMIM - HGNC]
  • MIR6816:microRNA 6816 [Gene - HGNC]
  • MICAL3:microtubule associated monooxygenase, calponin and LIM domain containing 3 [Gene - OMIM - HGNC]
  • MRPL40:mitochondrial ribosomal protein L40 [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]
  • PRODH:proline dehydrogenase 1 [Gene - OMIM - HGNC]
  • RTN4R:reticulon 4 receptor [Gene - OMIM - HGNC]
  • RTL10:retrotransposon Gag like 10 [Gene - HGNC]
  • SEPTIN5:septin 5 [Gene - OMIM - HGNC]
  • SNORA77B:small nucleolar RNA, H/ACA box 77B [Gene - HGNC]
  • SLC25A18:solute carrier family 25 member 18 [Gene - OMIM - HGNC]
  • SLC25A1:solute carrier family 25 member 1 [Gene - OMIM - HGNC]
  • TRMT2A:tRNA methyltransferase 2 homolog A [Gene - OMIM - HGNC]
  • TSSK2:testis specific serine kinase 2 [Gene - OMIM - HGNC]
  • TXNRD2:thioredoxin reductase 2 [Gene - OMIM - HGNC]
  • TMEM121B:transmembrane protein 121B [Gene - HGNC]
  • TMEM191B:transmembrane protein 191B [Gene - HGNC]
  • TANGO2:transport and golgi organization 2 homolog [Gene - OMIM - HGNC]
  • TUBA8:tubulin alpha 8 [Gene - OMIM - HGNC]
  • UFD1:ubiquitin recognition factor in ER associated degradation 1 [Gene - OMIM - HGNC]
  • USP18:ubiquitin specific peptidase 18 [Gene - OMIM - HGNC]
  • LOC101929372:uncharacterized LOC101929372 [Gene]
  • LOC122455341:uncharacterized LOC122455341 [Gene]
  • ZDHHC8:zinc finger DHHC-type palmitoyltransferase 8 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
22q11.1-11.21
Genomic location:
Preferred name:
GRCh38/hg38 22q11.1-11.21(chr22:16916608-20354644)x3
HGVS:
  • NC_000022.11:g.(?_16916608)_(20354644_?)dup
  • NC_000022.10:g.(?_17397498)_(20708934_?)dup
  • NC_000022.9:g.(?_15777498)_(19038934_?)dup
Links:
dbVar: nssv706217; dbVar: nsv491853
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000173193ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Jan 14, 2011) 		not providedclinical 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, SCV000173193.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023