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NC_000022.11:g.18948676_21110520dup AND Chromosome 22q11.2 microduplication syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 15, 2021
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:
RCV003313910.1

Allele description [Variation Report for NC_000022.11:g.18948676_21110520dup]

NC_000022.11:g.18948676_21110520dup

Genes:
  • ARVCF:ARVCF delta catenin family member [Gene - OMIM - HGNC]
  • 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]
  • LOC130066995:ATAC-STARR-seq lymphoblastoid active region 18678 [Gene]
  • LOC130066997:ATAC-STARR-seq lymphoblastoid active region 18679 [Gene]
  • LOC130066998:ATAC-STARR-seq lymphoblastoid active region 18680 [Gene]
  • LOC130066999:ATAC-STARR-seq lymphoblastoid active region 18681 [Gene]
  • LOC130067000:ATAC-STARR-seq lymphoblastoid active region 18682 [Gene]
  • 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]
  • 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]
  • LOC130066996:ATAC-STARR-seq lymphoblastoid silent region 13496 [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]
  • LOC126863097:BRD4-independent group 4 enhancer GRCh37_chr22:19220751-19221950 [Gene]
  • LOC126863098:BRD4-independent group 4 enhancer GRCh37_chr22:19894389-19895588 [Gene]
  • LOC116309126:CRISPRi-validated cis-regulatory element chr22.250 [Gene]
  • LOC116309127:CRISPRi-validated cis-regulatory element chr22.431 [Gene]
  • CRKL:CRK like proto-oncogene, adaptor protein [Gene - OMIM - HGNC]
  • 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]
  • GNB1L:G protein subunit beta 1 like [Gene - OMIM - HGNC]
  • LOC129391263:MPRA-validated peak4453 silencer [Gene]
  • LOC129391264:MPRA-validated peak4456 silencer [Gene]
  • LOC129391265:MPRA-validated peak4458 silencer [Gene]
  • LOC129391266:MPRA-validated peak4460 silencer [Gene]
  • LOC129391267:MPRA-validated peak4461 silencer [Gene]
  • LOC132090627:Neanderthal introgressed variant-containing enhancer experimental_62558 [Gene]
  • LOC132090918:Neanderthal introgressed variant-containing enhancer experimental_62637 [Gene]
  • LOC132090919:Neanderthal introgressed variant-containing enhancer experimental_62654 [Gene]
  • LOC132090920:Neanderthal introgressed variant-containing enhancer experimental_62657 [Gene]
  • LOC132090628:Neanderthal introgressed variant-containing enhancer experimental_62670 [Gene]
  • LOC132090629:Neanderthal introgressed variant-containing enhancer experimental_62725 [Gene]
  • LOC132090630:Neanderthal introgressed variant-containing enhancer experimental_62734 [Gene]
  • LOC132090631:Neanderthal introgressed variant-containing enhancer experimental_62743 [Gene]
  • LOC132090632:Neanderthal introgressed variant-containing enhancer experimental_62777 [Gene]
  • LOC132090633:Neanderthal introgressed variant-containing enhancer experimental_62783 [Gene]
  • LOC132090634:Neanderthal introgressed variant-containing enhancer experimental_62800 [Gene]
  • LOC132090635:Neanderthal introgressed variant-containing enhancer experimental_62813 [Gene]
  • LOC132090636:Neanderthal introgressed variant-containing enhancer experimental_62823 [Gene]
  • LOC132090637:Neanderthal introgressed variant-containing enhancer experimental_62834 [Gene]
  • LOC132090638:Neanderthal introgressed variant-containing enhancer experimental_62844 [Gene]
  • RANBP1:RAN binding protein 1 [Gene - OMIM - HGNC]
  • SEPT5-GP1BB:SEPT5-GP1BB readthrough [Gene]
  • LOC121627931:Sharpr-MPRA regulatory region 10319 [Gene]
  • LOC112694764:Sharpr-MPRA regulatory region 10527 [Gene]
  • LOC121627930:Sharpr-MPRA regulatory region 10582 [Gene]
  • LOC125424387:Sharpr-MPRA regulatory region 11316 [Gene]
  • LOC114004361:Sharpr-MPRA regulatory region 11686 [Gene]
  • LOC121627929:Sharpr-MPRA regulatory region 13949 [Gene]
  • LOC125424386:Sharpr-MPRA regulatory region 15144 [Gene]
  • LOC112694766:Sharpr-MPRA regulatory region 2516 [Gene]
  • LOC112694767:Sharpr-MPRA regulatory region 818 [Gene]
  • LOC125424388:Sharpr-MPRA regulatory region 9836 [Gene]
  • TBX1:T-box transcription factor 1 [Gene - OMIM - HGNC]
  • THAP7:THAP domain containing 7 [Gene - OMIM - HGNC]
  • THAP7-AS1:THAP7 antisense RNA 1 [Gene - HGNC]
  • UFD1-AS1:UFD1 antisense RNA 1 [Gene - HGNC]
  • LOC110121413:VISTA enhancer hs1620 [Gene]
  • LOC110120888:VISTA enhancer hs515 [Gene]
  • AIFM3:apoptosis inducing factor mitochondria associated 3 [Gene - OMIM - 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]
  • FAM230G:family with sequence similarity 230 member G [Gene - HGNC]
  • FAM246C:family with sequence similarity 246 member C (gene/pseudogene) [Gene - HGNC]
  • GP1BB:glycoprotein Ib platelet subunit beta [Gene - OMIM - HGNC]
  • GSC2:goosecoid homeobox 2 [Gene - OMIM - HGNC]
  • HIRA:histone cell cycle regulator [Gene - OMIM - HGNC]
  • KLHL22:kelch like family member 22 [Gene - OMIM - HGNC]
  • LRRC74B:leucine rich repeat containing 74B [Gene - HGNC]
  • LZTR1:leucine zipper like post translational regulator 1 [Gene - OMIM - HGNC]
  • LINC01311:long intergenic non-protein coding RNA 1311 [Gene - HGNC]
  • LINC01637:long intergenic non-protein coding RNA 1637 [Gene - HGNC]
  • LINC02891:long intergenic non-protein coding RNA 2891 [Gene - HGNC]
  • LINC00895:long intergenic non-protein coding RNA 895 [Gene - HGNC]
  • LINC00896:long intergenic non-protein coding RNA 896 [Gene - HGNC]
  • MED15:mediator complex subunit 15 [Gene - OMIM - HGNC]
  • MIR1286:microRNA 1286 [Gene - HGNC]
  • MIR1306:microRNA 1306 [Gene - HGNC]
  • MIR185:microRNA 185 [Gene - OMIM - HGNC]
  • MIR3618:microRNA 3618 [Gene - HGNC]
  • MIR4761:microRNA 4761 [Gene - HGNC]
  • MIR649:microRNA 649 [Gene - HGNC]
  • MIR6816:microRNA 6816 [Gene - HGNC]
  • MRPL40:mitochondrial ribosomal protein L40 [Gene - OMIM - HGNC]
  • PI4KA:phosphatidylinositol 4-kinase alpha [Gene - OMIM - HGNC]
  • P2RX6:purinergic receptor P2X 6 [Gene - OMIM - HGNC]
  • RTN4R:reticulon 4 receptor [Gene - OMIM - HGNC]
  • RTL10:retrotransposon Gag like 10 [Gene - HGNC]
  • SCARF2:scavenger receptor class F member 2 [Gene - OMIM - HGNC]
  • SEPTIN5:septin 5 [Gene - OMIM - HGNC]
  • SERPIND1:serpin family D member 1 [Gene - OMIM - HGNC]
  • SNORA77B:small nucleolar RNA, H/ACA box 77B [Gene - HGNC]
  • SLC25A1:solute carrier family 25 member 1 [Gene - OMIM - HGNC]
  • SLC7A4:solute carrier family 7 member 4 [Gene - OMIM - HGNC]
  • SNAP29:synaptosome associated protein 29 [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]
  • TANGO2:transport and golgi organization 2 homolog [Gene - OMIM - HGNC]
  • UFD1:ubiquitin recognition factor in ER associated degradation 1 [Gene - OMIM - HGNC]
  • USP41:ubiquitin specific peptidase 41 [Gene - HGNC]
  • ZDHHC8:zinc finger DHHC-type palmitoyltransferase 8 [Gene - OMIM - HGNC]
  • ZNF74:zinc finger protein 74 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
22q11.21
Genomic location:
Chr22: 18948676 - 21110520 (on Assembly GRCh38)
Preferred name:
NC_000022.11:g.18948676_21110520dup
HGVS:
NC_000022.11:g.18948676_21110520dup

Condition(s)

Name:
Chromosome 22q11.2 microduplication syndrome
Synonyms:
22q11.2 duplication syndrome; 22q11.2 microduplication syndrome; Chromosome 22q11.2 duplication syndrome
Identifiers:
MONDO: MONDO:0012020; MedGen: C2675369; Orphanet: 1727; OMIM: 608363

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004013141Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 15, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV004013141.1

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

Last Updated: Oct 14, 2023