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GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
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:
RCV000050640.5

Allele description [Variation Report for GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3]

GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3

Genes:
  • OPLAH:5-oxoprolinase, ATP-hydrolysing [Gene - OMIM - HGNC]
  • LOC130001359:ATAC-STARR-seq lymphoblastoid active region 28085 [Gene]
  • LOC130001362:ATAC-STARR-seq lymphoblastoid active region 28086 [Gene]
  • LOC130001363:ATAC-STARR-seq lymphoblastoid active region 28087 [Gene]
  • LOC130001365:ATAC-STARR-seq lymphoblastoid active region 28088 [Gene]
  • LOC130001368:ATAC-STARR-seq lymphoblastoid active region 28089 [Gene]
  • LOC130001369:ATAC-STARR-seq lymphoblastoid active region 28090 [Gene]
  • LOC130001382:ATAC-STARR-seq lymphoblastoid active region 28092 [Gene]
  • LOC130001383:ATAC-STARR-seq lymphoblastoid active region 28093 [Gene]
  • LOC130001384:ATAC-STARR-seq lymphoblastoid active region 28094 [Gene]
  • LOC130001391:ATAC-STARR-seq lymphoblastoid active region 28096 [Gene]
  • LOC130001394:ATAC-STARR-seq lymphoblastoid active region 28097 [Gene]
  • LOC130001397:ATAC-STARR-seq lymphoblastoid active region 28098 [Gene]
  • LOC130001408:ATAC-STARR-seq lymphoblastoid active region 28100 [Gene]
  • LOC130001409:ATAC-STARR-seq lymphoblastoid active region 28101 [Gene]
  • LOC130001417:ATAC-STARR-seq lymphoblastoid active region 28102 [Gene]
  • LOC130001418:ATAC-STARR-seq lymphoblastoid active region 28103 [Gene]
  • LOC130001360:ATAC-STARR-seq lymphoblastoid silent region 19651 [Gene]
  • LOC130001361:ATAC-STARR-seq lymphoblastoid silent region 19652 [Gene]
  • LOC130001364:ATAC-STARR-seq lymphoblastoid silent region 19654 [Gene]
  • LOC130001366:ATAC-STARR-seq lymphoblastoid silent region 19656 [Gene]
  • LOC130001367:ATAC-STARR-seq lymphoblastoid silent region 19657 [Gene]
  • LOC130001370:ATAC-STARR-seq lymphoblastoid silent region 19659 [Gene]
  • LOC130001371:ATAC-STARR-seq lymphoblastoid silent region 19660 [Gene]
  • LOC130001372:ATAC-STARR-seq lymphoblastoid silent region 19661 [Gene]
  • LOC130001373:ATAC-STARR-seq lymphoblastoid silent region 19662 [Gene]
  • LOC130001374:ATAC-STARR-seq lymphoblastoid silent region 19663 [Gene]
  • LOC130001375:ATAC-STARR-seq lymphoblastoid silent region 19664 [Gene]
  • LOC130001376:ATAC-STARR-seq lymphoblastoid silent region 19665 [Gene]
  • LOC130001377:ATAC-STARR-seq lymphoblastoid silent region 19666 [Gene]
  • LOC130001378:ATAC-STARR-seq lymphoblastoid silent region 19668 [Gene]
  • LOC130001379:ATAC-STARR-seq lymphoblastoid silent region 19669 [Gene]
  • LOC130001380:ATAC-STARR-seq lymphoblastoid silent region 19670 [Gene]
  • LOC130001381:ATAC-STARR-seq lymphoblastoid silent region 19671 [Gene]
  • LOC130001385:ATAC-STARR-seq lymphoblastoid silent region 19672 [Gene]
  • LOC130001386:ATAC-STARR-seq lymphoblastoid silent region 19673 [Gene]
  • LOC130001387:ATAC-STARR-seq lymphoblastoid silent region 19675 [Gene]
  • LOC130001388:ATAC-STARR-seq lymphoblastoid silent region 19676 [Gene]
  • LOC130001389:ATAC-STARR-seq lymphoblastoid silent region 19677 [Gene]
  • LOC130001390:ATAC-STARR-seq lymphoblastoid silent region 19678 [Gene]
  • LOC130001392:ATAC-STARR-seq lymphoblastoid silent region 19679 [Gene]
  • LOC130001393:ATAC-STARR-seq lymphoblastoid silent region 19680 [Gene]
  • LOC130001395:ATAC-STARR-seq lymphoblastoid silent region 19681 [Gene]
  • LOC130001396:ATAC-STARR-seq lymphoblastoid silent region 19682 [Gene]
  • LOC130001398:ATAC-STARR-seq lymphoblastoid silent region 19684 [Gene]
  • LOC130001399:ATAC-STARR-seq lymphoblastoid silent region 19685 [Gene]
  • LOC130001400:ATAC-STARR-seq lymphoblastoid silent region 19686 [Gene]
  • LOC130001401:ATAC-STARR-seq lymphoblastoid silent region 19689 [Gene]
  • LOC130001402:ATAC-STARR-seq lymphoblastoid silent region 19690 [Gene]
  • LOC130001403:ATAC-STARR-seq lymphoblastoid silent region 19691 [Gene]
  • LOC130001404:ATAC-STARR-seq lymphoblastoid silent region 19692 [Gene]
  • LOC130001405:ATAC-STARR-seq lymphoblastoid silent region 19695 [Gene]
  • LOC130001406:ATAC-STARR-seq lymphoblastoid silent region 19696 [Gene]
  • LOC130001407:ATAC-STARR-seq lymphoblastoid silent region 19697 [Gene]
  • LOC130001410:ATAC-STARR-seq lymphoblastoid silent region 19698 [Gene]
  • LOC130001411:ATAC-STARR-seq lymphoblastoid silent region 19699 [Gene]
  • LOC130001412:ATAC-STARR-seq lymphoblastoid silent region 19700 [Gene]
  • LOC130001413:ATAC-STARR-seq lymphoblastoid silent region 19702 [Gene]
  • LOC130001414:ATAC-STARR-seq lymphoblastoid silent region 19706 [Gene]
  • LOC130001415:ATAC-STARR-seq lymphoblastoid silent region 19707 [Gene]
  • LOC130001416:ATAC-STARR-seq lymphoblastoid silent region 19708 [Gene]
  • LOC130001419:ATAC-STARR-seq lymphoblastoid silent region 19709 [Gene]
  • BOP1:BOP1 ribosomal biogenesis factor [Gene - OMIM - HGNC]
  • FBXL6:F-box and leucine rich repeat protein 6 [Gene - OMIM - HGNC]
  • HGH1:HGH1 homolog [Gene - OMIM - HGNC]
  • MAF1:MAF1 homolog, negative regulator of RNA polymerase III [Gene - OMIM - HGNC]
  • LOC126860550:MED14-independent group 3 enhancer GRCh37_chr8:145795054-145796253 [Gene]
  • LOC126860551:MED14-independent group 3 enhancer GRCh37_chr8:145926819-145928018 [Gene]
  • RECQL4:RecQ like helicase 4 [Gene - OMIM - HGNC]
  • ARHGAP39:Rho GTPase activating protein 39 [Gene - OMIM - HGNC]
  • SHARPIN:SHANK associated RH domain interactor [Gene - OMIM - HGNC]
  • LOC124188251:Sharpr-MPRA regulatory region 10254 [Gene]
  • LOC124188250:Sharpr-MPRA regulatory region 11949 [Gene]
  • LOC121740736:Sharpr-MPRA regulatory region 12231 [Gene]
  • LOC121740735:Sharpr-MPRA regulatory region 12380 [Gene]
  • LOC124188249:Sharpr-MPRA regulatory region 2015 [Gene]
  • LOC113788267:Sharpr-MPRA regulatory region 2030 [Gene]
  • LOC121331315:Sharpr-MPRA regulatory region 4846 [Gene]
  • TMEM276-ZFTRAF1:TMEM276-ZFTRAF1 readthrough [Gene - HGNC]
  • TONSL-AS1:TONSL antisense RNA 1 [Gene - HGNC]
  • VPS28:VPS28 subunit of ESCRT-I [Gene - OMIM - HGNC]
  • WDR97:WD repeat domain 97 [Gene - HGNC]
  • ADCK5:aarF domain containing kinase 5 [Gene - HGNC]
  • C8orf82:chromosome 8 open reading frame 82 [Gene - HGNC]
  • CPSF1:cleavage and polyadenylation specific factor 1 [Gene - OMIM - HGNC]
  • CYC1:cytochrome c1 [Gene - OMIM - HGNC]
  • DGAT1:diacylglycerol O-acyltransferase 1 [Gene - OMIM - HGNC]
  • EXOSC4:exosome component 4 [Gene - OMIM - HGNC]
  • FOXH1:forkhead box H1 [Gene - OMIM - HGNC]
  • GPT:glutamic--pyruvic transaminase [Gene - OMIM - HGNC]
  • GPAA1:glycosylphosphatidylinositol anchor attachment 1 [Gene - OMIM - HGNC]
  • HSF1:heat shock transcription factor 1 [Gene - OMIM - HGNC]
  • KIFC2:kinesin family member C2 [Gene - OMIM - HGNC]
  • LRRC14:leucine rich repeat containing 14 [Gene - OMIM - HGNC]
  • LRRC24:leucine rich repeat containing 24 [Gene - OMIM - HGNC]
  • MROH1:maestro heat like repeat family member 1 [Gene - HGNC]
  • MFSD3:major facilitator superfamily domain containing 3 [Gene - OMIM - HGNC]
  • MIR10400:microRNA 10400 [Gene - HGNC]
  • MIR1234:microRNA 1234 [Gene - HGNC]
  • MIR6846:microRNA 6846 [Gene - HGNC]
  • MIR6847:microRNA 6847 [Gene - HGNC]
  • MIR6848:microRNA 6848 [Gene - HGNC]
  • MIR6849:microRNA 6849 [Gene - HGNC]
  • MIR6850:microRNA 6850 [Gene - HGNC]
  • MIR6893:microRNA 6893 [Gene - HGNC]
  • MIR7112:microRNA 7112 [Gene - HGNC]
  • MIR939:microRNA 939 [Gene - HGNC]
  • PARP10:poly(ADP-ribose) polymerase family member 10 [Gene - OMIM - HGNC]
  • PPP1R16A:protein phosphatase 1 regulatory subunit 16A [Gene - OMIM - HGNC]
  • RPL8:ribosomal protein L8 [Gene - OMIM - HGNC]
  • SCX:scleraxis bHLH transcription factor [Gene - OMIM - HGNC]
  • SCRT1:scratch family transcriptional repressor 1 [Gene - OMIM - HGNC]
  • SLC39A4:solute carrier family 39 member 4 [Gene - OMIM - HGNC]
  • SLC52A2:solute carrier family 52 member 2 [Gene - OMIM - HGNC]
  • SPATC1:spermatogenesis and centriole associated 1 [Gene - OMIM - HGNC]
  • TONSL:tonsoku like, DNA repair protein [Gene - OMIM - HGNC]
  • TMEM249:transmembrane protein 249 [Gene - HGNC]
  • TMEM276:transmembrane protein 276 [Gene - HGNC]
  • LOC101928902:uncharacterized LOC101928902 [Gene]
  • ZFTRAF1:zinc finger TRAF-type containing 1 [Gene - OMIM - HGNC]
  • ZNF251:zinc finger protein 251 [Gene - HGNC]
  • ZNF34:zinc finger protein 34 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3
HGVS:
  • NC_000008.11:g.(?_144002671)_(144796947_?)dup
  • NC_000008.10:g.(?_145076839)_(146022332_?)dup
  • NC_000008.9:g.(?_145148827)_(145993136_?)dup
Links:
dbVar: nssv579108; dbVar: nsv529275
Observations:
1

Condition(s)

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

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    Protein
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    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000077970ISCA site 4

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 4, SCV000077970.4

#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