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Single allele AND Schizophrenia

Germline classification:
Likely 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:
RCV000754267.1

Allele description [Variation Report for Single allele]

Genes:
  • LOC129933831:ATAC-STARR-seq lymphoblastoid active region 15830 [Gene]
  • LOC129933835:ATAC-STARR-seq lymphoblastoid active region 15831 [Gene]
  • LOC129933836:ATAC-STARR-seq lymphoblastoid active region 15832 [Gene]
  • LOC129933837:ATAC-STARR-seq lymphoblastoid active region 15833 [Gene]
  • LOC129933838:ATAC-STARR-seq lymphoblastoid active region 15834 [Gene]
  • LOC129933839:ATAC-STARR-seq lymphoblastoid active region 15835 [Gene]
  • LOC129933841:ATAC-STARR-seq lymphoblastoid active region 15836 [Gene]
  • LOC129933842:ATAC-STARR-seq lymphoblastoid active region 15838 [Gene]
  • LOC129933843:ATAC-STARR-seq lymphoblastoid active region 15839 [Gene]
  • LOC129933844:ATAC-STARR-seq lymphoblastoid active region 15840 [Gene]
  • LOC129933845:ATAC-STARR-seq lymphoblastoid active region 15841 [Gene]
  • LOC129933847:ATAC-STARR-seq lymphoblastoid active region 15843 [Gene]
  • LOC129933848:ATAC-STARR-seq lymphoblastoid active region 15844 [Gene]
  • LOC129933849:ATAC-STARR-seq lymphoblastoid active region 15845 [Gene]
  • LOC129933850:ATAC-STARR-seq lymphoblastoid active region 15846 [Gene]
  • LOC129933851:ATAC-STARR-seq lymphoblastoid active region 15848 [Gene]
  • LOC129933852:ATAC-STARR-seq lymphoblastoid active region 15849 [Gene]
  • LOC129933855:ATAC-STARR-seq lymphoblastoid active region 15850 [Gene]
  • LOC129933857:ATAC-STARR-seq lymphoblastoid active region 15851 [Gene]
  • LOC129933858:ATAC-STARR-seq lymphoblastoid active region 15852 [Gene]
  • LOC129933859:ATAC-STARR-seq lymphoblastoid active region 15855 [Gene]
  • LOC129933860:ATAC-STARR-seq lymphoblastoid active region 15856 [Gene]
  • LOC129933861:ATAC-STARR-seq lymphoblastoid active region 15857 [Gene]
  • LOC129933862:ATAC-STARR-seq lymphoblastoid active region 15858 [Gene]
  • LOC129933863:ATAC-STARR-seq lymphoblastoid active region 15859 [Gene]
  • LOC129933864:ATAC-STARR-seq lymphoblastoid active region 15860 [Gene]
  • LOC129933865:ATAC-STARR-seq lymphoblastoid active region 15861 [Gene]
  • LOC129933866:ATAC-STARR-seq lymphoblastoid active region 15862 [Gene]
  • LOC129933867:ATAC-STARR-seq lymphoblastoid active region 15863 [Gene]
  • LOC129933868:ATAC-STARR-seq lymphoblastoid active region 15864 [Gene]
  • LOC129933869:ATAC-STARR-seq lymphoblastoid active region 15865 [Gene]
  • LOC129933870:ATAC-STARR-seq lymphoblastoid active region 15866 [Gene]
  • LOC129933830:ATAC-STARR-seq lymphoblastoid silent region 11526 [Gene]
  • LOC129933832:ATAC-STARR-seq lymphoblastoid silent region 11527 [Gene]
  • LOC129933833:ATAC-STARR-seq lymphoblastoid silent region 11528 [Gene]
  • LOC129933834:ATAC-STARR-seq lymphoblastoid silent region 11529 [Gene]
  • LOC129933840:ATAC-STARR-seq lymphoblastoid silent region 11531 [Gene]
  • LOC129933846:ATAC-STARR-seq lymphoblastoid silent region 11532 [Gene]
  • LOC129933853:ATAC-STARR-seq lymphoblastoid silent region 11533 [Gene]
  • LOC129933854:ATAC-STARR-seq lymphoblastoid silent region 11535 [Gene]
  • LOC129933856:ATAC-STARR-seq lymphoblastoid silent region 11536 [Gene]
  • LOC129933871:ATAC-STARR-seq lymphoblastoid silent region 11537 [Gene]
  • LOC126806225:BRD4-independent group 4 enhancer GRCh37_chr2:62552835-62554034 [Gene]
  • FAM161A:FAM161 centrosomal protein A [Gene - OMIM - HGNC]
  • LOC129388867:MPRA-validated peak3715 silencer [Gene]
  • LOC129388868:MPRA-validated peak3716 silencer [Gene]
  • LOC129388869:MPRA-validated peak3717 silencer [Gene]
  • LOC129388870:MPRA-validated peak3721 silencer [Gene]
  • LOC129388871:MPRA-validated peak3722 silencer [Gene]
  • LOC129388872:MPRA-validated peak3724 silencer [Gene]
  • LOC122757952:Sharpr-MPRA regulatory region 11227 [Gene]
  • LOC122757951:Sharpr-MPRA regulatory region 6736 [Gene]
  • B3GNT2:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 [Gene - OMIM - HGNC]
  • USP34-DT:USP34 divergent transcript [Gene - HGNC]
  • CCT4:chaperonin containing TCP1 subunit 4 [Gene - OMIM - HGNC]
  • COMMD1:copper metabolism domain containing 1 [Gene - OMIM - HGNC]
  • XPO1:exportin 1 [Gene - OMIM - HGNC]
  • MIR5192:microRNA 5192 [Gene - HGNC]
  • SNORA70B:small nucleolar RNA, H/ACA box 70B [Gene - HGNC]
  • TMEM17:transmembrane protein 17 [Gene - OMIM - HGNC]
  • USP34:ubiquitin specific peptidase 34 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p15
Genomic location:
Chr2: 61372285 - 62496451 (on Assembly GRCh38)

Condition(s)

Name:
Schizophrenia (SCZD)
Identifiers:
MONDO: MONDO:0005090; MeSH: D012559; MedGen: C0036341; OMIM: 181500; Human Phenotype Ontology: HP:0100753

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000778070Department of Psychiatry, Nagoya University
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)		Likely 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, SCV000778070.1

#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: Feb 20, 2024