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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:
RCV000754168.2

Allele description [Variation Report for Single allele]

Genes:
  • LOC130058496:ATAC-STARR-seq lymphoblastoid active region 10440 [Gene]
  • LOC130058497:ATAC-STARR-seq lymphoblastoid active region 10441 [Gene]
  • LOC130058498:ATAC-STARR-seq lymphoblastoid active region 10444 [Gene]
  • LOC130058499:ATAC-STARR-seq lymphoblastoid active region 10445 [Gene]
  • LOC130058500:ATAC-STARR-seq lymphoblastoid active region 10450 [Gene]
  • LOC130058503:ATAC-STARR-seq lymphoblastoid active region 10451 [Gene]
  • LOC130058505:ATAC-STARR-seq lymphoblastoid active region 10455 [Gene]
  • LOC130058506:ATAC-STARR-seq lymphoblastoid active region 10456 [Gene]
  • LOC130058507:ATAC-STARR-seq lymphoblastoid active region 10457 [Gene]
  • LOC130058508:ATAC-STARR-seq lymphoblastoid active region 10458 [Gene]
  • LOC130058509:ATAC-STARR-seq lymphoblastoid active region 10459 [Gene]
  • LOC130058514:ATAC-STARR-seq lymphoblastoid active region 10461 [Gene]
  • LOC130058515:ATAC-STARR-seq lymphoblastoid active region 10462 [Gene]
  • LOC130058517:ATAC-STARR-seq lymphoblastoid active region 10463 [Gene]
  • LOC130058518:ATAC-STARR-seq lymphoblastoid active region 10465 [Gene]
  • LOC130058520:ATAC-STARR-seq lymphoblastoid active region 10466 [Gene]
  • LOC130058521:ATAC-STARR-seq lymphoblastoid active region 10467 [Gene]
  • LOC130058523:ATAC-STARR-seq lymphoblastoid active region 10468 [Gene]
  • LOC130058524:ATAC-STARR-seq lymphoblastoid active region 10469 [Gene]
  • LOC130058525:ATAC-STARR-seq lymphoblastoid active region 10470 [Gene]
  • LOC130058526:ATAC-STARR-seq lymphoblastoid active region 10471 [Gene]
  • LOC130058528:ATAC-STARR-seq lymphoblastoid active region 10472 [Gene]
  • LOC130058529:ATAC-STARR-seq lymphoblastoid active region 10473 [Gene]
  • LOC130058530:ATAC-STARR-seq lymphoblastoid active region 10474 [Gene]
  • LOC130058531:ATAC-STARR-seq lymphoblastoid active region 10475 [Gene]
  • LOC130058532:ATAC-STARR-seq lymphoblastoid active region 10476 [Gene]
  • LOC130058533:ATAC-STARR-seq lymphoblastoid active region 10479 [Gene]
  • LOC130058534:ATAC-STARR-seq lymphoblastoid active region 10480 [Gene]
  • LOC130058537:ATAC-STARR-seq lymphoblastoid active region 10481 [Gene]
  • LOC130058538:ATAC-STARR-seq lymphoblastoid active region 10482 [Gene]
  • LOC130058539:ATAC-STARR-seq lymphoblastoid active region 10483 [Gene]
  • LOC130058540:ATAC-STARR-seq lymphoblastoid active region 10484 [Gene]
  • LOC130058501:ATAC-STARR-seq lymphoblastoid silent region 7204 [Gene]
  • LOC130058502:ATAC-STARR-seq lymphoblastoid silent region 7205 [Gene]
  • LOC130058504:ATAC-STARR-seq lymphoblastoid silent region 7206 [Gene]
  • LOC130058510:ATAC-STARR-seq lymphoblastoid silent region 7209 [Gene]
  • LOC130058511:ATAC-STARR-seq lymphoblastoid silent region 7211 [Gene]
  • LOC130058512:ATAC-STARR-seq lymphoblastoid silent region 7212 [Gene]
  • LOC130058513:ATAC-STARR-seq lymphoblastoid silent region 7215 [Gene]
  • LOC130058516:ATAC-STARR-seq lymphoblastoid silent region 7216 [Gene]
  • LOC130058519:ATAC-STARR-seq lymphoblastoid silent region 7217 [Gene]
  • LOC130058522:ATAC-STARR-seq lymphoblastoid silent region 7218 [Gene]
  • LOC130058527:ATAC-STARR-seq lymphoblastoid silent region 7219 [Gene]
  • LOC130058535:ATAC-STARR-seq lymphoblastoid silent region 7220 [Gene]
  • LOC130058536:ATAC-STARR-seq lymphoblastoid silent region 7221 [Gene]
  • LOC130058541:ATAC-STARR-seq lymphoblastoid silent region 7222 [Gene]
  • LOC126862289:BRD4-independent group 4 enhancer GRCh37_chr16:11944561-11945760 [Gene]
  • LOC126862290:BRD4-independent group 4 enhancer GRCh37_chr16:12435179-12436378 [Gene]
  • LOC126862294:BRD4-independent group 4 enhancer GRCh37_chr16:13546486-13547685 [Gene]
  • LOC116276448:CRISPRi-validated cis-regulatory element chr16.1337 [Gene]
  • GSPT1:G1 to S phase transition 1 [Gene - OMIM - HGNC]
  • LOC129390768:MPRA-validated peak2502 silencer [Gene]
  • LOC129390769:MPRA-validated peak2503 silencer [Gene]
  • LOC126862291:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:12707003-12708202 [Gene]
  • LOC126862292:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:13033541-13034740 [Gene]
  • LOC126862293:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:13400658-13401857 [Gene]
  • RSL1D1-DT:RSL1D1 divergent transcript [Gene - HGNC]
  • LOC112296188:Sharpr-MPRA regulatory region 10358 [Gene]
  • LOC121530619:Sharpr-MPRA regulatory region 11276 [Gene]
  • LOC112296186:Sharpr-MPRA regulatory region 12750 [Gene]
  • LOC125146411:Sharpr-MPRA regulatory region 15429 [Gene]
  • LOC121530618:Sharpr-MPRA regulatory region 2664 [Gene]
  • LOC125146410:Sharpr-MPRA regulatory region 2706 [Gene]
  • LOC121847970:Sharpr-MPRA regulatory region 3169 [Gene]
  • LOC112296182:Sharpr-MPRA regulatory region 4417 [Gene]
  • LOC112296185:Sharpr-MPRA regulatory region 497 [Gene]
  • LOC112296187:Sharpr-MPRA regulatory region 5052 [Gene]
  • LOC112296181:Sharpr-MPRA regulatory region 8116 [Gene]
  • LOC112296183:Sharpr-MPRA regulatory region 8349 [Gene]
  • LOC112296184:Sharpr-MPRA regulatory region 9869 [Gene]
  • TNFRSF17:TNF receptor superfamily member 17 [Gene - OMIM - HGNC]
  • TXNDC11-AS1:TXNDC11 antisense RNA 1 [Gene - HGNC]
  • BCAR4:breast cancer anti-estrogen resistance 4 [Gene - OMIM - HGNC]
  • CPPED1:calcineurin like phosphoesterase domain containing 1 [Gene - OMIM - HGNC]
  • LITAF:lipopolysaccharide induced TNF factor [Gene - OMIM - HGNC]
  • MIR4718:microRNA 4718 [Gene - HGNC]
  • LOC106799840:nonconserved acetylation island sequence 94 enhancer [Gene]
  • NPIPB2:nuclear pore complex interacting protein family member B2 [Gene - HGNC]
  • LOC400499:putative uncharacterized protein LOC400499 [Gene]
  • RSL1D1:ribosomal L1 domain containing 1 [Gene - OMIM - HGNC]
  • SHISA9:shisa family member 9 [Gene - OMIM - HGNC]
  • SNX29:sorting nexin 29 [Gene - HGNC]
  • SNN:stannin [Gene - OMIM - HGNC]
  • TXNDC11:thioredoxin domain containing 11 [Gene - OMIM - HGNC]
  • LOC101927131:uncharacterized LOC101927131 [Gene]
  • LOC101927227:uncharacterized LOC101927227 [Gene]
  • ZC3H7A:zinc finger CCCH-type containing 7A [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16p13.13-13.12
Genomic location:
Chr16: 11369400 - 13577493 (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
SCV000777971Department 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, SCV000777971.1

#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