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GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 22, 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:
RCV000135819.5

Allele description [Variation Report for GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1]

GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1

Genes:
  • LOC130000979:ATAC-STARR-seq lymphoblastoid active region 27818 [Gene]
  • LOC130000980:ATAC-STARR-seq lymphoblastoid active region 27819 [Gene]
  • LOC130000981:ATAC-STARR-seq lymphoblastoid active region 27820 [Gene]
  • LOC130000982:ATAC-STARR-seq lymphoblastoid active region 27821 [Gene]
  • LOC130000983:ATAC-STARR-seq lymphoblastoid active region 27822 [Gene]
  • LOC130000984:ATAC-STARR-seq lymphoblastoid active region 27823 [Gene]
  • LOC130000985:ATAC-STARR-seq lymphoblastoid active region 27824 [Gene]
  • LOC130000986:ATAC-STARR-seq lymphoblastoid active region 27825 [Gene]
  • LOC130000987:ATAC-STARR-seq lymphoblastoid active region 27826 [Gene]
  • LOC130000988:ATAC-STARR-seq lymphoblastoid active region 27827 [Gene]
  • LOC130000989:ATAC-STARR-seq lymphoblastoid active region 27828 [Gene]
  • LOC130000990:ATAC-STARR-seq lymphoblastoid active region 27830 [Gene]
  • LOC130000991:ATAC-STARR-seq lymphoblastoid active region 27831 [Gene]
  • LOC130000994:ATAC-STARR-seq lymphoblastoid active region 27832 [Gene]
  • LOC130000995:ATAC-STARR-seq lymphoblastoid active region 27833 [Gene]
  • LOC130000996:ATAC-STARR-seq lymphoblastoid active region 27834 [Gene]
  • LOC130001000:ATAC-STARR-seq lymphoblastoid active region 27835 [Gene]
  • LOC130001001:ATAC-STARR-seq lymphoblastoid active region 27836 [Gene]
  • LOC130001005:ATAC-STARR-seq lymphoblastoid active region 27837 [Gene]
  • LOC130001006:ATAC-STARR-seq lymphoblastoid active region 27838 [Gene]
  • LOC130001007:ATAC-STARR-seq lymphoblastoid active region 27839 [Gene]
  • LOC130001008:ATAC-STARR-seq lymphoblastoid active region 27840 [Gene]
  • LOC130001011:ATAC-STARR-seq lymphoblastoid active region 27841 [Gene]
  • LOC130001012:ATAC-STARR-seq lymphoblastoid active region 27842 [Gene]
  • LOC130001013:ATAC-STARR-seq lymphoblastoid active region 27843 [Gene]
  • LOC130001014:ATAC-STARR-seq lymphoblastoid active region 27844 [Gene]
  • LOC130001017:ATAC-STARR-seq lymphoblastoid active region 27848 [Gene]
  • LOC130000992:ATAC-STARR-seq lymphoblastoid silent region 19473 [Gene]
  • LOC130000993:ATAC-STARR-seq lymphoblastoid silent region 19474 [Gene]
  • LOC130000997:ATAC-STARR-seq lymphoblastoid silent region 19475 [Gene]
  • LOC130000998:ATAC-STARR-seq lymphoblastoid silent region 19476 [Gene]
  • LOC130000999:ATAC-STARR-seq lymphoblastoid silent region 19477 [Gene]
  • LOC130001002:ATAC-STARR-seq lymphoblastoid silent region 19478 [Gene]
  • LOC130001003:ATAC-STARR-seq lymphoblastoid silent region 19479 [Gene]
  • LOC130001004:ATAC-STARR-seq lymphoblastoid silent region 19480 [Gene]
  • LOC130001009:ATAC-STARR-seq lymphoblastoid silent region 19481 [Gene]
  • LOC130001010:ATAC-STARR-seq lymphoblastoid silent region 19482 [Gene]
  • LOC130001015:ATAC-STARR-seq lymphoblastoid silent region 19483 [Gene]
  • LOC130001016:ATAC-STARR-seq lymphoblastoid silent region 19484 [Gene]
  • LOC126860475:BRD4-independent group 4 enhancer GRCh37_chr8:114444309-114445508 [Gene]
  • LOC126860480:BRD4-independent group 4 enhancer GRCh37_chr8:120079461-120080660 [Gene]
  • LOC126860483:BRD4-independent group 4 enhancer GRCh37_chr8:120450916-120452115 [Gene]
  • LOC126860477:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:118400318-118401517 [Gene]
  • LOC108281119:COLEC10 intron CAGE-defined low expression enhancer [Gene]
  • CSMD3:CUB and Sushi multiple domains 3 [Gene - OMIM - HGNC]
  • DEPTOR:DEP domain containing MTOR interacting protein [Gene - OMIM - HGNC]
  • DSCC1:DNA replication and sister chromatid cohesion 1 [Gene - OMIM - HGNC]
  • LOC108491824:EXT1 intron enhancer-blocking element 8-1-1 [Gene]
  • LOC111556135:HNF1 motif-containing MPRA enhancer 57 [Gene]
  • MAL2-AS1:MAL2 antisense RNA 1 [Gene - HGNC]
  • LOC126860474:MED14-independent group 3 enhancer GRCh37_chr8:113685670-113686869 [Gene]
  • LOC126860481:MED14-independent group 3 enhancer GRCh37_chr8:120181673-120182872 [Gene]
  • LOC129390042:MPRA-validated peak7153 silencer [Gene]
  • LOC126860476:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:116981560-116982759 [Gene]
  • LOC126860478:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:119030582-119031781 [Gene]
  • LOC126860479:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:119451504-119452703 [Gene]
  • LOC126860482:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:120218741-120219940 [Gene]
  • RAD21-AS1:RAD21 antisense RNA 1 [Gene - HGNC]
  • RAD21:RAD21 cohesin complex component [Gene - OMIM - HGNC]
  • SAMD12-AS1:SAMD12 antisense RNA 1 [Gene - HGNC]
  • LOC121331310:Sharpr-MPRA regulatory region 10947 [Gene]
  • LOC124188206:Sharpr-MPRA regulatory region 14285 [Gene]
  • LOC124188210:Sharpr-MPRA regulatory region 15323 [Gene]
  • LOC113788248:Sharpr-MPRA regulatory region 238 [Gene]
  • LOC113788247:Sharpr-MPRA regulatory region 2988 [Gene]
  • LOC121740726:Sharpr-MPRA regulatory region 6921 [Gene]
  • LOC124188208:Sharpr-MPRA regulatory region 7200 [Gene]
  • LOC124188209:Sharpr-MPRA regulatory region 7316 [Gene]
  • LOC124188207:Sharpr-MPRA regulatory region 8624 [Gene]
  • LOC124174319:Sharpr-MPRA regulatory region 9276 [Gene]
  • LOC121740727:Sharpr-MPRA regulatory region 9283 [Gene]
  • LOC124174318:Sharpr-MPRA regulatory region 9676 [Gene]
  • TAF2:TATA-box binding protein associated factor 2 [Gene - OMIM - HGNC]
  • TNFRSF11B:TNF receptor superfamily member 11b [Gene - OMIM - HGNC]
  • TRPS1-AS1:TRPS1 antisense RNA 1 [Gene - HGNC]
  • UTP23:UTP23 small subunit processome component [Gene - HGNC]
  • LOC110120802:VISTA enhancer hs919 [Gene]
  • AARD:alanine and arginine rich domain containing protein [Gene - HGNC]
  • CCN3:cellular communication network factor 3 [Gene - OMIM - HGNC]
  • COLEC10:collectin subfamily member 10 [Gene - OMIM - HGNC]
  • ENPP2:ectonucleotide pyrophosphatase/phosphodiesterase 2 [Gene - OMIM - HGNC]
  • EIF3H:eukaryotic translation initiation factor 3 subunit H [Gene - OMIM - HGNC]
  • EXT1:exostosin glycosyltransferase 1 [Gene - OMIM - HGNC]
  • LINC00536:long intergenic non-protein coding RNA 536 [Gene - HGNC]
  • MAL2:mal, T cell differentiation protein 2 [Gene - OMIM - HGNC]
  • MED30:mediator complex subunit 30 [Gene - OMIM - HGNC]
  • MIR2053:microRNA 2053 [Gene - HGNC]
  • MIR3610:microRNA 3610 [Gene - HGNC]
  • MIR548AZ:microRNA 548az [Gene - HGNC]
  • SNORD168:small nucleolar RNA, C/D box 168 [Gene - HGNC]
  • SLC30A8:solute carrier family 30 member 8 [Gene - OMIM - HGNC]
  • SAMD12:sterile alpha motif domain containing 12 [Gene - OMIM - HGNC]
  • TRPS1:transcriptional repressor GATA binding 1 [Gene - OMIM - HGNC]
  • LOC101927513:uncharacterized LOC101927513 [Gene]
  • LOC105375713:uncharacterized LOC105375713 [Gene]
Variant type:
copy number loss
Cytogenetic location:
8q23.3-24.12
Genomic location:
Preferred name:
GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1
HGVS:
  • NC_000008.11:g.(?_112528342)_(120083041_?)del
  • NC_000008.10:g.(?_113540571)_(121095280_?)del
  • NC_000008.9:g.(?_113609747)_(121164461_?)del
Links:
dbVar: nssv582779; dbVar: nsv533095
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
SCV000175820ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 22, 2010) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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 1, SCV000175820.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024