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GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 30, 2010
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000135294.8

Allele description [Variation Report for GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3]

GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3

Genes:
  • ASAH1-AS1:ASAH1 antisense RNA 1 [Gene - HGNC]
  • LOC129999920:ATAC-STARR-seq lymphoblastoid active region 27043 [Gene]
  • LOC129999921:ATAC-STARR-seq lymphoblastoid active region 27044 [Gene]
  • LOC129999922:ATAC-STARR-seq lymphoblastoid active region 27045 [Gene]
  • LOC129999928:ATAC-STARR-seq lymphoblastoid active region 27046 [Gene]
  • LOC129999932:ATAC-STARR-seq lymphoblastoid active region 27047 [Gene]
  • LOC129999936:ATAC-STARR-seq lymphoblastoid active region 27048 [Gene]
  • LOC129999937:ATAC-STARR-seq lymphoblastoid active region 27049 [Gene]
  • LOC129999938:ATAC-STARR-seq lymphoblastoid active region 27050 [Gene]
  • LOC129999939:ATAC-STARR-seq lymphoblastoid active region 27051 [Gene]
  • LOC129999941:ATAC-STARR-seq lymphoblastoid active region 27053 [Gene]
  • LOC129999944:ATAC-STARR-seq lymphoblastoid active region 27055 [Gene]
  • LOC129999945:ATAC-STARR-seq lymphoblastoid active region 27056 [Gene]
  • LOC129999946:ATAC-STARR-seq lymphoblastoid active region 27057 [Gene]
  • LOC129999947:ATAC-STARR-seq lymphoblastoid active region 27058 [Gene]
  • LOC129999949:ATAC-STARR-seq lymphoblastoid active region 27059 [Gene]
  • LOC129999950:ATAC-STARR-seq lymphoblastoid active region 27060 [Gene]
  • LOC129999952:ATAC-STARR-seq lymphoblastoid active region 27061 [Gene]
  • LOC129999953:ATAC-STARR-seq lymphoblastoid active region 27062 [Gene]
  • LOC129999954:ATAC-STARR-seq lymphoblastoid active region 27063 [Gene]
  • LOC129999956:ATAC-STARR-seq lymphoblastoid active region 27064 [Gene]
  • LOC129999957:ATAC-STARR-seq lymphoblastoid active region 27065 [Gene]
  • LOC129999918:ATAC-STARR-seq lymphoblastoid silent region 18950 [Gene]
  • LOC129999919:ATAC-STARR-seq lymphoblastoid silent region 18951 [Gene]
  • LOC129999923:ATAC-STARR-seq lymphoblastoid silent region 18955 [Gene]
  • LOC129999924:ATAC-STARR-seq lymphoblastoid silent region 18956 [Gene]
  • LOC129999925:ATAC-STARR-seq lymphoblastoid silent region 18957 [Gene]
  • LOC129999926:ATAC-STARR-seq lymphoblastoid silent region 18958 [Gene]
  • LOC129999927:ATAC-STARR-seq lymphoblastoid silent region 18959 [Gene]
  • LOC129999929:ATAC-STARR-seq lymphoblastoid silent region 18960 [Gene]
  • LOC129999930:ATAC-STARR-seq lymphoblastoid silent region 18961 [Gene]
  • LOC129999931:ATAC-STARR-seq lymphoblastoid silent region 18962 [Gene]
  • LOC129999933:ATAC-STARR-seq lymphoblastoid silent region 18963 [Gene]
  • LOC129999934:ATAC-STARR-seq lymphoblastoid silent region 18964 [Gene]
  • LOC129999935:ATAC-STARR-seq lymphoblastoid silent region 18965 [Gene]
  • LOC129999940:ATAC-STARR-seq lymphoblastoid silent region 18966 [Gene]
  • LOC129999942:ATAC-STARR-seq lymphoblastoid silent region 18967 [Gene]
  • LOC129999943:ATAC-STARR-seq lymphoblastoid silent region 18968 [Gene]
  • LOC129999948:ATAC-STARR-seq lymphoblastoid silent region 18969 [Gene]
  • LOC129999951:ATAC-STARR-seq lymphoblastoid silent region 18970 [Gene]
  • LOC129999955:ATAC-STARR-seq lymphoblastoid silent region 18971 [Gene]
  • LOC129999958:ATAC-STARR-seq lymphoblastoid silent region 18972 [Gene]
  • ATP6V1B2:ATPase H+ transporting V1 subunit B2 [Gene - OMIM - HGNC]
  • LOC126860306:BRD4-independent group 4 enhancer GRCh37_chr8:13223844-13225043 [Gene]
  • LOC126860310:BRD4-independent group 4 enhancer GRCh37_chr8:18522753-18523952 [Gene]
  • LOC126860311:BRD4-independent group 4 enhancer GRCh37_chr8:18696773-18697972 [Gene]
  • LOC126860316:BRD4-independent group 4 enhancer GRCh37_chr8:19522068-19523267 [Gene]
  • LOC126860317:BRD4-independent group 4 enhancer GRCh37_chr8:19589033-19590232 [Gene]
  • LOC126860319:BRD4-independent group 4 enhancer GRCh37_chr8:20269567-20270766 [Gene]
  • CNOT7:CCR4-NOT transcription complex subunit 7 [Gene - OMIM - HGNC]
  • LOC126860307:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:15041688-15042887 [Gene]
  • LOC126860309:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:17193352-17194551 [Gene]
  • LOC126860313:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:19051482-19052681 [Gene]
  • LOC126860315:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:19435762-19436961 [Gene]
  • LOC126860318:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:20021901-20023100 [Gene]
  • LOC116186922:CRISPRi-validated cis-regulatory element chr8.526 [Gene]
  • DLC1:DLC1 Rho GTPase activating protein [Gene - OMIM - HGNC]
  • LONRF1:LON peptidase N-terminal domain and ring finger 1 [Gene - HGNC]
  • LZTS1-AS1:LZTS1 antisense RNA 1 [Gene - HGNC]
  • LOC126860305:MED14-independent group 3 enhancer GRCh37_chr8:12947375-12948574 [Gene]
  • LOC126860312:MED14-independent group 3 enhancer GRCh37_chr8:18797082-18798281 [Gene]
  • LOC126860314:MED14-independent group 3 enhancer GRCh37_chr8:19394183-19395382 [Gene]
  • LOC129389957:MPRA-validated peak6913 silencer [Gene]
  • LOC129389958:MPRA-validated peak6918 silencer [Gene]
  • LOC129389959:MPRA-validated peak6924 silencer [Gene]
  • LOC129389960:MPRA-validated peak6932 silencer [Gene]
  • LOC129389961:MPRA-validated peak6933 silencer [Gene]
  • LOC129389962:MPRA-validated peak6935 silencer [Gene]
  • MTUS1-DT:MTUS1 divergent transcript [Gene - HGNC]
  • NAT1:N-acetyltransferase 1 [Gene - OMIM - HGNC]
  • NAT2:N-acetyltransferase 2 [Gene - OMIM - HGNC]
  • ASAH1:N-acylsphingosine amidohydrolase 1 [Gene - OMIM - HGNC]
  • LOC132090783:Neanderthal introgressed variant-containing enhancer experimental_101206 [Gene]
  • LOC132089561:Neanderthal introgressed variant-containing enhancer experimental_101305 [Gene]
  • LOC132089562:Neanderthal introgressed variant-containing enhancer experimental_101359 [Gene]
  • LOC132089563:Neanderthal introgressed variant-containing enhancer experimental_101439 [Gene]
  • LOC132089564:Neanderthal introgressed variant-containing enhancer experimental_101469 [Gene]
  • LOC132089565:Neanderthal introgressed variant-containing enhancer experimental_101507 [Gene]
  • LOC132089566:Neanderthal introgressed variant-containing enhancer experimental_101599 [Gene]
  • LOC132089567:Neanderthal introgressed variant-containing enhancer experimental_101611 [Gene]
  • LOC132089568:Neanderthal introgressed variant-containing enhancer experimental_101653 [Gene]
  • LOC132089569:Neanderthal introgressed variant-containing enhancer experimental_101701 [Gene]
  • LOC132089570:Neanderthal introgressed variant-containing enhancer experimental_101766 [Gene]
  • LOC132089571:Neanderthal introgressed variant-containing enhancer experimental_101789 [Gene]
  • LOC132089572:Neanderthal introgressed variant-containing enhancer experimental_101818 [Gene]
  • LOC132089573:Neanderthal introgressed variant-containing enhancer experimental_101852 [Gene]
  • LOC132089574:Neanderthal introgressed variant-containing enhancer experimental_101878 [Gene]
  • LOC132089575:Neanderthal introgressed variant-containing enhancer experimental_101891 [Gene]
  • LOC132089576:Neanderthal introgressed variant-containing enhancer experimental_101912 [Gene]
  • LOC132089577:Neanderthal introgressed variant-containing enhancer experimental_101932 [Gene]
  • LOC132089578:Neanderthal introgressed variant-containing enhancer experimental_102128 [Gene]
  • LOC132089579:Neanderthal introgressed variant-containing enhancer experimental_102145 [Gene]
  • LOC132089580:Neanderthal introgressed variant-containing enhancer experimental_102166 [Gene]
  • LOC132089581:Neanderthal introgressed variant-containing enhancer experimental_102220 [Gene]
  • LOC132089582:Neanderthal introgressed variant-containing enhancer experimental_102343 [Gene]
  • LOC132089583:Neanderthal introgressed variant-containing enhancer experimental_102346 [Gene]
  • LOC132089584:Neanderthal introgressed variant-containing enhancer experimental_102562 [Gene]
  • LOC132089585:Neanderthal introgressed variant-containing enhancer experimental_102576 [Gene]
  • LOC132205968:Neanderthal introgressed variant-containing enhancers experimental_101563 and experimental_101568 [Gene]
  • LOC132205969:Neanderthal introgressed variant-containing enhancers experimental_102032 and experimental_102034 [Gene]
  • LOC126860308:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:16683483-16684682 [Gene]
  • SH2D4A:SH2 domain containing 4A [Gene - OMIM - HGNC]
  • LOC121294074:Sharpr-MPRA regulatory region 10012 [Gene]
  • LOC124110277:Sharpr-MPRA regulatory region 10035 [Gene]
  • LOC113788268:Sharpr-MPRA regulatory region 10631 [Gene]
  • LOC124049166:Sharpr-MPRA regulatory region 1393 [Gene]
  • LOC124110276:Sharpr-MPRA regulatory region 14094 [Gene]
  • LOC124153111:Sharpr-MPRA regulatory region 14364 [Gene]
  • LOC121294073:Sharpr-MPRA regulatory region 1875 [Gene]
  • LOC124110275:Sharpr-MPRA regulatory region 2048 [Gene]
  • LOC124153112:Sharpr-MPRA regulatory region 2266 [Gene]
  • LOC124153114:Sharpr-MPRA regulatory region 4415 [Gene]
  • LOC124153116:Sharpr-MPRA regulatory region 772 [Gene]
  • LOC124153115:Sharpr-MPRA regulatory region 9780 [Gene]
  • LOC124153113:Sharpr-MPRA regulatory region 9839 [Gene]
  • VPS37A:VPS37A subunit of ESCRT-I [Gene - OMIM - HGNC]
  • CSGALNACT1:chondroitin sulfate N-acetylgalactosaminyltransferase 1 [Gene - OMIM - HGNC]
  • C8orf48:chromosome 8 open reading frame 48 [Gene - HGNC]
  • FGL1:fibrinogen like 1 [Gene - OMIM - HGNC]
  • FGF20:fibroblast growth factor 20 [Gene - OMIM - HGNC]
  • INTS10:integrator complex subunit 10 [Gene - OMIM - HGNC]
  • LZTS1:leucine zipper tumor suppressor 1 [Gene - OMIM - HGNC]
  • LPL:lipoprotein lipase [Gene - OMIM - HGNC]
  • LINC03019:long intergenic non-protein coding RNA 3019 [Gene - HGNC]
  • LINC00681:long intergenic non-protein coding RNA 681 [Gene - HGNC]
  • MSR1:macrophage scavenger receptor 1 [Gene - OMIM - HGNC]
  • MIR383:microRNA 383 [Gene - HGNC]
  • MIR548V:microRNA 548v [Gene - HGNC]
  • MTUS1:microtubule associated scaffold protein 1 [Gene - OMIM - HGNC]
  • MICU3:mitochondrial calcium uptake family member 3 [Gene - OMIM - HGNC]
  • MTMR7:myotubularin related protein 7 [Gene - OMIM - HGNC]
  • PCM1:pericentriolar material 1 [Gene - OMIM - HGNC]
  • PDGFRL:platelet derived growth factor receptor like [Gene - OMIM - HGNC]
  • PSD3:pleckstrin and Sec7 domain containing 3 [Gene - OMIM - HGNC]
  • SGCZ:sarcoglycan zeta [Gene - OMIM - HGNC]
  • SLC18A1:solute carrier family 18 member A1 [Gene - OMIM - HGNC]
  • SLC7A2:solute carrier family 7 member 2 [Gene - OMIM - HGNC]
  • TRMT9B:tRNA methyltransferase 9B (putative) [Gene - OMIM - HGNC]
  • TUSC3:tumor suppressor candidate 3 [Gene - OMIM - HGNC]
  • LOC100128993:uncharacterized LOC100128993 [Gene]
  • LOC102725080:uncharacterized LOC102725080 [Gene]
  • LOC105379292:uncharacterized LOC105379292 [Gene]
  • LOC105379301:uncharacterized LOC105379301 [Gene]
  • LOC105379311:uncharacterized LOC105379311 [Gene]
  • LOC105379314:uncharacterized LOC105379314 [Gene]
  • ZDHHC2:zinc finger DHHC-type palmitoyltransferase 2 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
8p23.1-21.3
Genomic location:
Preferred name:
GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3
HGVS:
  • NC_000008.11:g.(?_12732530)_(20436882_?)dup
  • NC_000008.10:g.(?_12590039)_(20294393_?)dup
Links:
dbVar: nssv585180; dbVar: nsv498468
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000174974ISCA Site 6

See additional submitters

no assertion criteria provided
Pathogenic
(Nov 30, 2010) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

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 6, SCV000174974.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024