GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1 AND See cases
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Dec 10, 2012
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000051171.7
Allele description [Variation Report for GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1]
GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1
- 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]
- 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]
- 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]
- DGCR6:DiGeorge syndrome critical region gene 6 [Gene - OMIM - HGNC]
- GNB1L:G protein subunit beta 1 like [Gene - OMIM - HGNC]
- LOC129391263:MPRA-validated peak4453 silencer [Gene]
- LOC129391262:MPRA-validated peak4455 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]
- RIMBP3:RIMS binding protein 3 [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]
- 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]
- HIRA:histone cell cycle regulator [Gene - OMIM - HGNC]
- HSERVPRODH:human-specific endogenous retroviral insert PRODH enhancer [Gene]
- 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]
- PRODH:proline dehydrogenase 1 [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]
- TMEM191B:transmembrane protein 191B [Gene - 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]
- LOC122455341:uncharacterized LOC122455341 [Gene]
- ZDHHC8:zinc finger DHHC-type palmitoyltransferase 8 [Gene - OMIM - HGNC]
- ZNF74:zinc finger protein 74 [Gene - OMIM - HGNC]
- Variant type:
- copy number loss
- Cytogenetic location:
- 22q11.21
- Genomic location:
- Preferred name:
- GRCh38/hg38 22q11.21(chr22:18178957-21151128)x1
- HGVS:
- NC_000022.11:g.(?_18178957)_(21151128_?)del
- NC_000022.10:g.(?_18661724)_(21505417_?)del
- NC_000022.9:g.(?_17041724)_(19835417_?)del
This HGVS expression did not pass validation- Links:
- dbVar: nssv1495105; dbVar: nssv1603619; dbVar: nssv1609605; dbVar: nssv1610048; dbVar: nssv576762; dbVar: nssv582561; dbVar: nssv583055; dbVar: nssv584443; dbVar: nssv706492; dbVar: nsv529715
- Observations:
- 9
Condition(s)
- Name:
- See cases [See the Variation display for details]
- Identifiers:
Assertion and evidence details
| Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
|---|---|---|---|---|---|---|
| SCV000196333 | ISCA site 1
| no assertion criteria provided | Pathogenic (Dec 10, 2012) | not provided | clinical testing | |
| SCV000196334 | ISCA site 4
| no assertion criteria provided | Pathogenic (Dec 30, 2009) | not provided | clinical testing |
Summary from all submissions
| Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
|---|---|---|---|---|---|---|---|---|
| not provided | not provided | yes | 9 | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
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, SCV000196333.3
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
| 2 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
| 3 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
| 4 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
| 5 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
| 6 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
| 7 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
| 8 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | not provided | yes | not provided | not provided | Discovery | 1 | not provided | not provided | not provided | |
| 2 | not provided | yes | not provided | not provided | Discovery | 1 | not provided | not provided | not provided | |
| 3 | not provided | yes | not provided | not provided | Discovery | 1 | not provided | not provided | not provided | |
| 4 | not provided | yes | not provided | not provided | Discovery | 1 | not provided | not provided | not provided | |
| 5 | not provided | yes | not provided | not provided | Discovery | 1 | not provided | not provided | not provided | |
| 6 | not provided | yes | not provided | not provided | Discovery | 1 | not provided | not provided | not provided | |
| 7 | not provided | yes | not provided | not provided | Discovery | 1 | not provided | not provided | not provided | |
| 8 | not provided | yes | not provided | not provided | Discovery | 1 | not provided | not provided | not provided | |
From ISCA site 4, SCV000196334.2
| # | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
|---|---|---|---|---|---|---|
| 1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
| # | Sample | Method | Observation | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
| 1 | not provided | yes | not provided | not provided | Discovery | 1 | not provided | not provided | not provided | |
Last Updated: Oct 14, 2023