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GRCh38/hg38 11q24.3-25(chr11:130457291-133168833)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 18, 2014
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:
RCV000143289.6

Allele description [Variation Report for GRCh38/hg38 11q24.3-25(chr11:130457291-133168833)x3]

GRCh38/hg38 11q24.3-25(chr11:130457291-133168833)x3

Genes:
  • LOC108165613:11q24.3 distal HERV-mediated recombination region [Gene]
  • LOC108165612:11q24.3 proximal HERV-mediated recombination region [Gene]
  • ADAMTS15:ADAM metallopeptidase with thrombospondin type 1 motif 15 [Gene - OMIM - HGNC]
  • LOC130007095:ATAC-STARR-seq lymphoblastoid active region 5756 [Gene]
  • LOC130007097:ATAC-STARR-seq lymphoblastoid active region 5757 [Gene]
  • LOC130007098:ATAC-STARR-seq lymphoblastoid active region 5758 [Gene]
  • LOC130007099:ATAC-STARR-seq lymphoblastoid active region 5759 [Gene]
  • LOC130007101:ATAC-STARR-seq lymphoblastoid active region 5760 [Gene]
  • LOC130007103:ATAC-STARR-seq lymphoblastoid active region 5761 [Gene]
  • LOC130007104:ATAC-STARR-seq lymphoblastoid active region 5762 [Gene]
  • LOC130007105:ATAC-STARR-seq lymphoblastoid active region 5763 [Gene]
  • LOC130007106:ATAC-STARR-seq lymphoblastoid active region 5764 [Gene]
  • LOC130007107:ATAC-STARR-seq lymphoblastoid active region 5765 [Gene]
  • LOC130007096:ATAC-STARR-seq lymphoblastoid silent region 4082 [Gene]
  • LOC130007100:ATAC-STARR-seq lymphoblastoid silent region 4083 [Gene]
  • LOC130007102:ATAC-STARR-seq lymphoblastoid silent region 4084 [Gene]
  • LOC130007108:ATAC-STARR-seq lymphoblastoid silent region 4085 [Gene]
  • LOC126861390:BRD4-independent group 4 enhancer GRCh37_chr11:130347582-130348781 [Gene]
  • LOC126861393:BRD4-independent group 4 enhancer GRCh37_chr11:130741218-130742417 [Gene]
  • LOC126861399:BRD4-independent group 4 enhancer GRCh37_chr11:132483305-132484504 [Gene]
  • LOC126861401:BRD4-independent group 4 enhancer GRCh37_chr11:132780259-132781458 [Gene]
  • LOC126861394:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:130868662-130869861 [Gene]
  • LOC126861395:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:131211673-131212872 [Gene]
  • LOC126861397:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:132188093-132189292 [Gene]
  • LOC126861398:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:132340747-132341946 [Gene]
  • LOC126861400:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:132502505-132503704 [Gene]
  • LOC126861392:MED14-independent group 3 enhancer GRCh37_chr11:130651600-130652799 [Gene]
  • LOC126861396:MED14-independent group 3 enhancer GRCh37_chr11:131958013-131959212 [Gene]
  • LOC129390379:MPRA-validated peak1516 silencer [Gene]
  • NTM-AS1:NTM antisense RNA 1 [Gene - HGNC]
  • NTM-IT:NTM intronic transcript [Gene - HGNC]
  • LOC126861391:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:130381109-130382308 [Gene]
  • LOC124625874:Sharpr-MPRA regulatory region 13378 [Gene]
  • LOC124625873:Sharpr-MPRA regulatory region 14910 [Gene]
  • LOC121392952:Sharpr-MPRA regulatory region 15285 [Gene]
  • LOC124625872:Sharpr-MPRA regulatory region 1894 [Gene]
  • LOC121392953:Sharpr-MPRA regulatory region 6145 [Gene]
  • LOC110120853:VISTA enhancer hs335 [Gene]
  • LINC02551:long intergenic non-protein coding RNA 2551 [Gene - HGNC]
  • LINC02873:long intergenic non-protein coding RNA 2873 [Gene - HGNC]
  • MIR8052:microRNA 8052 [Gene - HGNC]
  • NTM:neurotrimin [Gene - OMIM - HGNC]
  • OPCML:opioid binding protein/cell adhesion molecule like [Gene - OMIM - HGNC]
  • SNX19:sorting nexin 19 [Gene - HGNC]
  • LOC101929653:uncharacterized LOC101929653 [Gene]
Variant type:
copy number gain
Cytogenetic location:
11q24.3-25
Genomic location:
Preferred name:
GRCh38/hg38 11q24.3-25(chr11:130457291-133168833)x3
HGVS:
  • NC_000011.10:g.(?_130457291)_(133168833_?)dup
  • NC_000011.9:g.(?_130327186)_(133038728_?)dup
Links:
dbVar: nssv1610441; dbVar: nsv932247
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
SCV000181728ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Jul 18, 2014) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humande novoyes1not 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, SCV000181728.4

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

Last Updated: May 7, 2024