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Single allele AND Autism

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 20, 2018
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:
RCV000754248.1

Allele description [Variation Report for Single allele]

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]
  • 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]
  • 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]
  • 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]
  • LOC132090627:Neanderthal introgressed variant-containing enhancer experimental_62558 [Gene]
  • RANBP1:RAN binding protein 1 [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]
  • LOC121627929:Sharpr-MPRA regulatory region 13949 [Gene]
  • LOC125424386:Sharpr-MPRA regulatory region 15144 [Gene]
  • LOC112694766:Sharpr-MPRA regulatory region 2516 [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]
  • LOC110120888:VISTA enhancer hs515 [Gene]
  • 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]
  • 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]
  • HSERVPRODH:human-specific endogenous retroviral insert PRODH enhancer [Gene]
  • LINC01311:long intergenic non-protein coding RNA 1311 [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]
  • 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]
  • MIR6816:microRNA 6816 [Gene - HGNC]
  • MRPL40:mitochondrial ribosomal protein L40 [Gene - OMIM - HGNC]
  • PRODH:proline dehydrogenase 1 [Gene - OMIM - HGNC]
  • RTN4R:reticulon 4 receptor [Gene - OMIM - HGNC]
  • RTL10:retrotransposon Gag like 10 [Gene - OMIM - HGNC]
  • SEPTIN5:septin 5 [Gene - OMIM - HGNC]
  • SNORA77B:small nucleolar RNA, H/ACA box 77B [Gene - 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]
  • TANGO2:transport and golgi organization 2 homolog [Gene - OMIM - HGNC]
  • UFD1:ubiquitin recognition factor in ER associated degradation 1 [Gene - OMIM - HGNC]
  • LOC122455341:uncharacterized LOC122455341 [Gene]
  • ZDHHC8:zinc finger DHHC-type palmitoyltransferase 8 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
22q11.21
Genomic location:
Chr22: 18904453 - 20324329 (on Assembly GRCh38)

Condition(s)

Name:
Autism (AUTS)
Synonyms:
Autistic disorder; Autistic disorder of childhood onset
Identifiers:
MONDO: MONDO:0005260; MeSH: D001321; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000778051Department of Psychiatry, Nagoya University
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)		Pathogenic
(Mar 20, 2018) 		germlineresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]
PMID:
21681106

Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.

Kushima I, Aleksic B, Nakatochi M, Shimamura T, Okada T, Uno Y, Morikawa M, Ishizuka K, Shiino T, Kimura H, Arioka Y, Yoshimi A, Takasaki Y, Yu Y, Nakamura Y, Yamamoto M, Iidaka T, Iritani S, Inada T, Ogawa N, Shishido E, Torii Y, et al.

Cell Rep. 2018 Sep 11;24(11):2838-2856. doi: 10.1016/j.celrep.2018.08.022.

PubMed [citation]
PMID:
30208311

Details of each submission

From Department of Psychiatry, Nagoya University, SCV000778051.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 9, 2024