U.S. flag

An official website of the United States government

GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 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:
RCV000134807.4

Allele description [Variation Report for GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3]

GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3

Genes:
  • LOC130005835:ATAC-STARR-seq lymphoblastoid active region 4825 [Gene]
  • LOC130005836:ATAC-STARR-seq lymphoblastoid active region 4828 [Gene]
  • LOC130005838:ATAC-STARR-seq lymphoblastoid active region 4830 [Gene]
  • LOC130005839:ATAC-STARR-seq lymphoblastoid active region 4831 [Gene]
  • LOC130005840:ATAC-STARR-seq lymphoblastoid active region 4832 [Gene]
  • LOC130005841:ATAC-STARR-seq lymphoblastoid active region 4833 [Gene]
  • LOC130005844:ATAC-STARR-seq lymphoblastoid active region 4834 [Gene]
  • LOC130005845:ATAC-STARR-seq lymphoblastoid active region 4835 [Gene]
  • LOC130005846:ATAC-STARR-seq lymphoblastoid active region 4836 [Gene]
  • LOC130005847:ATAC-STARR-seq lymphoblastoid active region 4837 [Gene]
  • LOC130005848:ATAC-STARR-seq lymphoblastoid active region 4839 [Gene]
  • LOC130005849:ATAC-STARR-seq lymphoblastoid active region 4840 [Gene]
  • LOC130005852:ATAC-STARR-seq lymphoblastoid active region 4841 [Gene]
  • LOC130005853:ATAC-STARR-seq lymphoblastoid active region 4842 [Gene]
  • LOC130005854:ATAC-STARR-seq lymphoblastoid active region 4843 [Gene]
  • LOC130005855:ATAC-STARR-seq lymphoblastoid active region 4844 [Gene]
  • LOC130005856:ATAC-STARR-seq lymphoblastoid active region 4845 [Gene]
  • LOC130005858:ATAC-STARR-seq lymphoblastoid active region 4846 [Gene]
  • LOC130005859:ATAC-STARR-seq lymphoblastoid active region 4847 [Gene]
  • LOC130005860:ATAC-STARR-seq lymphoblastoid active region 4848 [Gene]
  • LOC130005862:ATAC-STARR-seq lymphoblastoid active region 4849 [Gene]
  • LOC130005864:ATAC-STARR-seq lymphoblastoid active region 4850 [Gene]
  • LOC130005865:ATAC-STARR-seq lymphoblastoid active region 4851 [Gene]
  • LOC130005866:ATAC-STARR-seq lymphoblastoid active region 4852 [Gene]
  • LOC130005867:ATAC-STARR-seq lymphoblastoid active region 4853 [Gene]
  • LOC130005868:ATAC-STARR-seq lymphoblastoid active region 4854 [Gene]
  • LOC130005869:ATAC-STARR-seq lymphoblastoid active region 4855 [Gene]
  • LOC130005870:ATAC-STARR-seq lymphoblastoid active region 4856 [Gene]
  • LOC130005871:ATAC-STARR-seq lymphoblastoid active region 4857 [Gene]
  • LOC130005872:ATAC-STARR-seq lymphoblastoid active region 4858 [Gene]
  • LOC130005837:ATAC-STARR-seq lymphoblastoid silent region 3419 [Gene]
  • LOC130005842:ATAC-STARR-seq lymphoblastoid silent region 3422 [Gene]
  • LOC130005843:ATAC-STARR-seq lymphoblastoid silent region 3424 [Gene]
  • LOC130005850:ATAC-STARR-seq lymphoblastoid silent region 3427 [Gene]
  • LOC130005851:ATAC-STARR-seq lymphoblastoid silent region 3428 [Gene]
  • LOC130005857:ATAC-STARR-seq lymphoblastoid silent region 3429 [Gene]
  • LOC130005861:ATAC-STARR-seq lymphoblastoid silent region 3430 [Gene]
  • LOC130005863:ATAC-STARR-seq lymphoblastoid silent region 3431 [Gene]
  • BSCL2:BSCL2 lipid droplet biogenesis associated, seipin [Gene - OMIM - HGNC]
  • LOC126861228:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:62475600-62476799 [Gene]
  • EML3:EMAP like 3 [Gene - OMIM - HGNC]
  • GNG3:G protein subunit gamma 3 [Gene - OMIM - HGNC]
  • HNRNPUL2-BSCL2:HNRNPUL2-BSCL2 readthrough (NMD candidate) [Gene - HGNC]
  • LBHD1:LBH domain containing 1 [Gene - HGNC]
  • LRRN4CL:LRRN4 C-terminal like [Gene - HGNC]
  • POLR2G:RNA polymerase II subunit G [Gene - OMIM - HGNC]
  • STX5-DT:STX5 divergent transcript [Gene - HGNC]
  • TAF6L:TATA-box binding protein associated factor 6 like [Gene - OMIM - HGNC]
  • UBXN1:UBX domain protein 1 [Gene - OMIM - HGNC]
  • WDR74:WD repeat domain 74 [Gene - OMIM - HGNC]
  • B3GAT3:beta-1,3-glucuronyltransferase 3 [Gene - OMIM - HGNC]
  • C11orf98:chromosome 11 open reading frame 98 [Gene - HGNC]
  • CSKMT:citrate synthase lysine methyltransferase [Gene - OMIM - HGNC]
  • EEF1G:eukaryotic translation elongation factor 1 gamma [Gene - OMIM - HGNC]
  • GANAB:glucosidase II alpha subunit [Gene - OMIM - HGNC]
  • HNRNPUL2:heterogeneous nuclear ribonucleoprotein U like 2 [Gene - HGNC]
  • INTS5:integrator complex subunit 5 [Gene - OMIM - HGNC]
  • MTA2:metastasis associated 1 family member 2 [Gene - OMIM - HGNC]
  • MIR6514:microRNA 6514 [Gene - HGNC]
  • MIR6747:microRNA 6747 [Gene - HGNC]
  • MIR6748:microRNA 6748 [Gene - HGNC]
  • NXF1:nuclear RNA export factor 1 [Gene - OMIM - HGNC]
  • ROM1:retinal outer segment membrane protein 1 [Gene - OMIM - HGNC]
  • SNORA57:small nucleolar RNA, H/ACA box 57 [Gene - HGNC]
  • STX5:syntaxin 5 [Gene - OMIM - HGNC]
  • TUT1:terminal uridylyl transferase 1, U6 snRNA-specific [Gene - OMIM - HGNC]
  • TEX54:testis expressed 54 [Gene - HGNC]
  • TTC9C:tetratricopeptide repeat domain 9C [Gene - HGNC]
  • TMEM179B:transmembrane protein 179B [Gene - HGNC]
  • TMEM223:transmembrane protein 223 [Gene - OMIM - HGNC]
  • UQCC3:ubiquinol-cytochrome c reductase complex assembly factor 3 [Gene - OMIM - HGNC]
  • ZBTB3:zinc finger and BTB domain containing 3 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
11q12.3
Genomic location:
Preferred name:
GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3
HGVS:
  • NC_000011.10:g.(?_62562836)_(62840570_?)dup
  • NC_000011.8:g.(?_62086884)_(62364618_?)dup
  • NC_000011.9:g.(?_62330308)_(62608042_?)dup
Links:
dbVar: nssv584080; dbVar: nsv497903
Observations:
1

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000174410ISCA site 4

See additional submitters

no assertion criteria provided
Uncertain significance
(Sep 30, 2010) 		not providedclinical 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 4, SCV000174410.3

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

Last Updated: Oct 14, 2023