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GRCh38/hg38 22q13.33(chr22:50274967-50739836)x3 AND See cases

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 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:
RCV000136874.5

Allele description [Variation Report for GRCh38/hg38 22q13.33(chr22:50274967-50739836)x3]

GRCh38/hg38 22q13.33(chr22:50274967-50739836)x3

Genes:
  • LOC130067839:ATAC-STARR-seq lymphoblastoid active region 19312 [Gene]
  • LOC130067845:ATAC-STARR-seq lymphoblastoid active region 19314 [Gene]
  • LOC130067847:ATAC-STARR-seq lymphoblastoid active region 19316 [Gene]
  • LOC130067848:ATAC-STARR-seq lymphoblastoid active region 19317 [Gene]
  • LOC130067852:ATAC-STARR-seq lymphoblastoid active region 19318 [Gene]
  • LOC130067853:ATAC-STARR-seq lymphoblastoid active region 19319 [Gene]
  • LOC130067854:ATAC-STARR-seq lymphoblastoid active region 19320 [Gene]
  • LOC130067858:ATAC-STARR-seq lymphoblastoid active region 19321 [Gene]
  • LOC130067863:ATAC-STARR-seq lymphoblastoid active region 19324 [Gene]
  • LOC130067864:ATAC-STARR-seq lymphoblastoid active region 19325 [Gene]
  • LOC130067872:ATAC-STARR-seq lymphoblastoid active region 19326 [Gene]
  • LOC130067873:ATAC-STARR-seq lymphoblastoid active region 19328 [Gene]
  • LOC130067874:ATAC-STARR-seq lymphoblastoid active region 19329 [Gene]
  • LOC130067875:ATAC-STARR-seq lymphoblastoid active region 19330 [Gene]
  • LOC130067879:ATAC-STARR-seq lymphoblastoid active region 19331 [Gene]
  • LOC130067886:ATAC-STARR-seq lymphoblastoid active region 19332 [Gene]
  • LOC130067888:ATAC-STARR-seq lymphoblastoid active region 19333 [Gene]
  • LOC130067837:ATAC-STARR-seq lymphoblastoid silent region 13968 [Gene]
  • LOC130067838:ATAC-STARR-seq lymphoblastoid silent region 13969 [Gene]
  • LOC130067840:ATAC-STARR-seq lymphoblastoid silent region 13970 [Gene]
  • LOC130067841:ATAC-STARR-seq lymphoblastoid silent region 13971 [Gene]
  • LOC130067842:ATAC-STARR-seq lymphoblastoid silent region 13972 [Gene]
  • LOC130067843:ATAC-STARR-seq lymphoblastoid silent region 13973 [Gene]
  • LOC130067844:ATAC-STARR-seq lymphoblastoid silent region 13974 [Gene]
  • LOC130067846:ATAC-STARR-seq lymphoblastoid silent region 13975 [Gene]
  • LOC130067849:ATAC-STARR-seq lymphoblastoid silent region 13976 [Gene]
  • LOC130067850:ATAC-STARR-seq lymphoblastoid silent region 13977 [Gene]
  • LOC130067851:ATAC-STARR-seq lymphoblastoid silent region 13978 [Gene]
  • LOC130067855:ATAC-STARR-seq lymphoblastoid silent region 13979 [Gene]
  • LOC130067856:ATAC-STARR-seq lymphoblastoid silent region 13981 [Gene]
  • LOC130067857:ATAC-STARR-seq lymphoblastoid silent region 13982 [Gene]
  • LOC130067859:ATAC-STARR-seq lymphoblastoid silent region 13983 [Gene]
  • LOC130067860:ATAC-STARR-seq lymphoblastoid silent region 13984 [Gene]
  • LOC130067861:ATAC-STARR-seq lymphoblastoid silent region 13985 [Gene]
  • LOC130067862:ATAC-STARR-seq lymphoblastoid silent region 13986 [Gene]
  • LOC130067865:ATAC-STARR-seq lymphoblastoid silent region 13987 [Gene]
  • LOC130067866:ATAC-STARR-seq lymphoblastoid silent region 13988 [Gene]
  • LOC130067867:ATAC-STARR-seq lymphoblastoid silent region 13989 [Gene]
  • LOC130067868:ATAC-STARR-seq lymphoblastoid silent region 13991 [Gene]
  • LOC130067869:ATAC-STARR-seq lymphoblastoid silent region 13992 [Gene]
  • LOC130067870:ATAC-STARR-seq lymphoblastoid silent region 13993 [Gene]
  • LOC130067871:ATAC-STARR-seq lymphoblastoid silent region 13994 [Gene]
  • LOC130067876:ATAC-STARR-seq lymphoblastoid silent region 13995 [Gene]
  • LOC130067877:ATAC-STARR-seq lymphoblastoid silent region 13996 [Gene]
  • LOC130067878:ATAC-STARR-seq lymphoblastoid silent region 13997 [Gene]
  • LOC130067880:ATAC-STARR-seq lymphoblastoid silent region 13998 [Gene]
  • LOC130067881:ATAC-STARR-seq lymphoblastoid silent region 13999 [Gene]
  • LOC130067882:ATAC-STARR-seq lymphoblastoid silent region 14000 [Gene]
  • LOC130067883:ATAC-STARR-seq lymphoblastoid silent region 14001 [Gene]
  • LOC130067884:ATAC-STARR-seq lymphoblastoid silent region 14002 [Gene]
  • LOC130067885:ATAC-STARR-seq lymphoblastoid silent region 14003 [Gene]
  • LOC130067887:ATAC-STARR-seq lymphoblastoid silent region 14004 [Gene]
  • LOC126863187:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:51094338-51095537 [Gene]
  • LOC126863188:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:51142004-51143203 [Gene]
  • CHKB-DT:CHKB divergent transcript [Gene - HGNC]
  • CHKB-CPT1B:CHKB-CPT1B readthrough (NMD candidate) [Gene - HGNC]
  • DENND6B:DENN domain containing 6B [Gene - OMIM - HGNC]
  • KLHDC7B-DT:KLHDC7B divergent transcript [Gene - HGNC]
  • LOC126863184:MED14-independent group 3 enhancer GRCh37_chr22:50720546-50721745 [Gene]
  • LOC126863186:MED14-independent group 3 enhancer GRCh37_chr22:50844619-50845818 [Gene]
  • LOC108281149:ODF3B-KLHDC7B intergenic CAGE-defined mid-level expression enhancer [Gene]
  • LOC126863185:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:50743729-50744928 [Gene]
  • SBF1:SET binding factor 1 [Gene - OMIM - HGNC]
  • SHANK3:SH3 and multiple ankyrin repeat domains 3 [Gene - OMIM - HGNC]
  • LOC125446262:Sharpr-MPRA regulatory region 13947 [Gene]
  • LOC121853048:Sharpr-MPRA regulatory region 1531 [Gene]
  • LOC121627956:Sharpr-MPRA regulatory region 5053 [Gene]
  • LOC121853047:Sharpr-MPRA regulatory region 5393 [Gene]
  • ACR:acrosin [Gene - OMIM - HGNC]
  • ADM2:adrenomedullin 2 [Gene - OMIM - HGNC]
  • ARSA:arylsulfatase A [Gene - OMIM - HGNC]
  • CPT1B:carnitine palmitoyltransferase 1B [Gene - OMIM - HGNC]
  • CHKB:choline kinase beta [Gene - OMIM - HGNC]
  • CIMAP1B:ciliary microtubule associated protein 1B [Gene - HGNC]
  • KLHDC7B:kelch domain containing 7B [Gene - OMIM - HGNC]
  • LMF2:lipase maturation factor 2 [Gene - HGNC]
  • MIR12114:microRNA 12114 [Gene - HGNC]
  • MAPK8IP2:mitogen-activated protein kinase 8 interacting protein 2 [Gene - OMIM - HGNC]
  • MIOX:myo-inositol oxygenase [Gene - OMIM - HGNC]
  • NCAPH2:non-SMC condensin II complex subunit H2 [Gene - OMIM - HGNC]
  • PLXNB2:plexin B2 [Gene - OMIM - HGNC]
  • PPP6R2:protein phosphatase 6 regulatory subunit 2 [Gene - OMIM - HGNC]
  • SYCE3:synaptonemal complex central element protein 3 [Gene - OMIM - HGNC]
  • SCO2:synthesis of cytochrome C oxidase 2 [Gene - OMIM - HGNC]
  • TYMP:thymidine phosphorylase [Gene - OMIM - HGNC]
  • LOC105373100:uncharacterized LOC105373100 [Gene]
Variant type:
copy number gain
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
GRCh38/hg38 22q13.33(chr22:50274967-50739836)x3
HGVS:
  • NC_000022.11:g.(?_50274967)_(50739836_?)dup
  • NC_000022.10:g.(?_50713396)_(51178264_?)dup
  • NC_000022.9:g.(?_49055523)_(49525130_?)dup
Links:
dbVar: nssv581655; dbVar: nsv534228
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
SCV000177006ISCA site 8

See additional submitters

no assertion criteria provided
Benign
(Jan 30, 2010) 		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

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, SCV000177006.3

#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