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GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 14, 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:
RCV000136846.5

Allele description [Variation Report for GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3]

GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3

Genes:
  • LOC130006637:ATAC-STARR-seq lymphoblastoid active region 5433 [Gene]
  • LOC130006641:ATAC-STARR-seq lymphoblastoid active region 5436 [Gene]
  • LOC130006642:ATAC-STARR-seq lymphoblastoid active region 5437 [Gene]
  • LOC130006643:ATAC-STARR-seq lymphoblastoid active region 5438 [Gene]
  • LOC130006644:ATAC-STARR-seq lymphoblastoid active region 5439 [Gene]
  • LOC130006645:ATAC-STARR-seq lymphoblastoid active region 5440 [Gene]
  • LOC130006646:ATAC-STARR-seq lymphoblastoid active region 5441 [Gene]
  • LOC130006647:ATAC-STARR-seq lymphoblastoid active region 5442 [Gene]
  • LOC130006648:ATAC-STARR-seq lymphoblastoid active region 5443 [Gene]
  • LOC130006649:ATAC-STARR-seq lymphoblastoid active region 5444 [Gene]
  • LOC130006650:ATAC-STARR-seq lymphoblastoid active region 5445 [Gene]
  • LOC130006651:ATAC-STARR-seq lymphoblastoid active region 5446 [Gene]
  • LOC130006653:ATAC-STARR-seq lymphoblastoid active region 5447 [Gene]
  • LOC130006657:ATAC-STARR-seq lymphoblastoid active region 5448 [Gene]
  • LOC130006660:ATAC-STARR-seq lymphoblastoid active region 5450 [Gene]
  • LOC130006661:ATAC-STARR-seq lymphoblastoid active region 5451 [Gene]
  • LOC130006662:ATAC-STARR-seq lymphoblastoid active region 5452 [Gene]
  • LOC130006663:ATAC-STARR-seq lymphoblastoid active region 5453 [Gene]
  • LOC130006664:ATAC-STARR-seq lymphoblastoid active region 5454 [Gene]
  • LOC130006665:ATAC-STARR-seq lymphoblastoid active region 5455 [Gene]
  • LOC130006666:ATAC-STARR-seq lymphoblastoid active region 5456 [Gene]
  • LOC130006638:ATAC-STARR-seq lymphoblastoid silent region 3858 [Gene]
  • LOC130006639:ATAC-STARR-seq lymphoblastoid silent region 3859 [Gene]
  • LOC130006640:ATAC-STARR-seq lymphoblastoid silent region 3860 [Gene]
  • LOC130006652:ATAC-STARR-seq lymphoblastoid silent region 3861 [Gene]
  • LOC130006654:ATAC-STARR-seq lymphoblastoid silent region 3862 [Gene]
  • LOC130006655:ATAC-STARR-seq lymphoblastoid silent region 3863 [Gene]
  • LOC130006656:ATAC-STARR-seq lymphoblastoid silent region 3864 [Gene]
  • LOC130006658:ATAC-STARR-seq lymphoblastoid silent region 3865 [Gene]
  • LOC130006659:ATAC-STARR-seq lymphoblastoid silent region 3866 [Gene]
  • LOC126861313:BRD4-independent group 4 enhancer GRCh37_chr11:101834504-101835703 [Gene]
  • LOC126861315:BRD4-independent group 4 enhancer GRCh37_chr11:102187662-102188861 [Gene]
  • LOC126861316:BRD4-independent group 4 enhancer GRCh37_chr11:102594892-102596091 [Gene]
  • LOC126861318:BRD4-independent group 4 enhancer GRCh37_chr11:102825894-102827093 [Gene]
  • DDI1:DNA damage inducible 1 homolog 1 [Gene - HGNC]
  • LOC126861314:MED14-independent group 3 enhancer GRCh37_chr11:101881654-101882853 [Gene]
  • LOC126861317:MED14-independent group 3 enhancer GRCh37_chr11:102623204-102624403 [Gene]
  • MMP20-AS1:MMP20 antisense RNA 1 [Gene - HGNC]
  • LOC129390348:MPRA-validated peak1439 silencer [Gene]
  • LOC129390349:MPRA-validated peak1441 silencer [Gene]
  • LOC132089887:Neanderthal introgressed variant-containing enhancer experimental_18559 [Gene]
  • LOC132089888:Neanderthal introgressed variant-containing enhancer experimental_18652 [Gene]
  • LOC132090840:Neanderthal introgressed variant-containing enhancer experimental_18668 [Gene]
  • LOC132089889:Neanderthal introgressed variant-containing enhancer experimental_18672 [Gene]
  • LOC132089890:Neanderthal introgressed variant-containing enhancer experimental_18676 [Gene]
  • LOC132089891:Neanderthal introgressed variant-containing enhancer experimental_18677 [Gene]
  • LOC132089892:Neanderthal introgressed variant-containing enhancer experimental_18685 [Gene]
  • LOC126861319:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:103496216-103497415 [Gene]
  • PDGFDDN:PDGFD downstream neighbor [Gene - HGNC]
  • LOC121832819:Sharpr-MPRA regulatory region 8516 [Gene]
  • LOC121392936:Sharpr-MPRA regulatory region 9487 [Gene]
  • TMEM123-DT:TMEM123 divergent transcript [Gene - HGNC]
  • YAP1:Yes1 associated transcriptional regulator [Gene - OMIM - HGNC]
  • ANGPTL5:angiopoietin like 5 [Gene - OMIM - HGNC]
  • BIRC2:baculoviral IAP repeat containing 2 [Gene - OMIM - HGNC]
  • BIRC3:baculoviral IAP repeat containing 3 [Gene - OMIM - HGNC]
  • CEP126:centrosomal protein 126 [Gene - OMIM - HGNC]
  • CFAP300:cilia and flagella associated protein 300 [Gene - OMIM - HGNC]
  • DCUN1D5:defective in cullin neddylation 1 domain containing 5 [Gene - OMIM - HGNC]
  • DYNC2H1:dynein cytoplasmic 2 heavy chain 1 [Gene - OMIM - HGNC]
  • MMP10:matrix metallopeptidase 10 [Gene - OMIM - HGNC]
  • MMP12:matrix metallopeptidase 12 [Gene - OMIM - HGNC]
  • MMP13:matrix metallopeptidase 13 [Gene - OMIM - HGNC]
  • MMP1:matrix metallopeptidase 1 [Gene - OMIM - HGNC]
  • MMP20:matrix metallopeptidase 20 [Gene - OMIM - HGNC]
  • MMP27:matrix metallopeptidase 27 [Gene - OMIM - HGNC]
  • MMP3:matrix metallopeptidase 3 [Gene - OMIM - HGNC]
  • MMP7:matrix metallopeptidase 7 [Gene - OMIM - HGNC]
  • MMP8:matrix metallopeptidase 8 [Gene - OMIM - HGNC]
  • MIR3920:microRNA 3920 [Gene - HGNC]
  • MIR4693:microRNA 4693 [Gene - HGNC]
  • PDGFD:platelet derived growth factor D [Gene - OMIM - HGNC]
  • TRPC6:transient receptor potential cation channel subfamily C member 6 [Gene - OMIM - HGNC]
  • TMEM123:transmembrane protein 123 [Gene - OMIM - HGNC]
  • LOC102723838:uncharacterized LOC102723838 [Gene]
Variant type:
copy number gain
Cytogenetic location:
11q22.1-22.3
Genomic location:
Preferred name:
GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3
HGVS:
  • NC_000011.10:g.(?_101452984)_(104044105_?)dup
  • NC_000011.8:g.(?_100828925)_(103420043_?)dup
  • NC_000011.9:g.(?_101323715)_(103914833_?)dup
Links:
dbVar: nssv582192; dbVar: nsv534196
Observations:
1

Condition(s)

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

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000176974ISCA site 8

See additional submitters

no assertion criteria provided
Pathogenic
(Oct 14, 2010) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde 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 8, SCV000176974.3

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

Last Updated: May 7, 2024