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GRCh38/hg38 21q22.3(chr21:44516679-45409275)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 3, 2013
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:
RCV000142218.5

Allele description [Variation Report for GRCh38/hg38 21q22.3(chr21:44516679-45409275)x1]

GRCh38/hg38 21q22.3(chr21:44516679-45409275)x1

Genes:
  • LOC130066831:ATAC-STARR-seq lymphoblastoid active region 18575 [Gene]
  • LOC130066836:ATAC-STARR-seq lymphoblastoid active region 18577 [Gene]
  • LOC130066837:ATAC-STARR-seq lymphoblastoid active region 18578 [Gene]
  • LOC130066838:ATAC-STARR-seq lymphoblastoid active region 18580 [Gene]
  • LOC130066841:ATAC-STARR-seq lymphoblastoid active region 18581 [Gene]
  • LOC130066842:ATAC-STARR-seq lymphoblastoid active region 18582 [Gene]
  • LOC130066844:ATAC-STARR-seq lymphoblastoid active region 18583 [Gene]
  • LOC130066845:ATAC-STARR-seq lymphoblastoid active region 18584 [Gene]
  • LOC130066849:ATAC-STARR-seq lymphoblastoid active region 18586 [Gene]
  • LOC130066832:ATAC-STARR-seq lymphoblastoid silent region 13388 [Gene]
  • LOC130066833:ATAC-STARR-seq lymphoblastoid silent region 13389 [Gene]
  • LOC130066834:ATAC-STARR-seq lymphoblastoid silent region 13390 [Gene]
  • LOC130066835:ATAC-STARR-seq lymphoblastoid silent region 13391 [Gene]
  • LOC130066839:ATAC-STARR-seq lymphoblastoid silent region 13394 [Gene]
  • LOC130066840:ATAC-STARR-seq lymphoblastoid silent region 13395 [Gene]
  • LOC130066843:ATAC-STARR-seq lymphoblastoid silent region 13396 [Gene]
  • LOC130066846:ATAC-STARR-seq lymphoblastoid silent region 13398 [Gene]
  • LOC130066847:ATAC-STARR-seq lymphoblastoid silent region 13399 [Gene]
  • LOC130066848:ATAC-STARR-seq lymphoblastoid silent region 13400 [Gene]
  • LOC130066850:ATAC-STARR-seq lymphoblastoid silent region 13401 [Gene]
  • LOC126653400:BRD4-independent group 4 enhancer GRCh37_chr21:46470000-46471199 [Gene]
  • LOC126653402:BRD4-independent group 4 enhancer GRCh37_chr21:46785000-46786199 [Gene]
  • LOC126653399:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:46347045-46348244 [Gene]
  • COL18A1-AS2:COL18A1 antisense RNA 2 [Gene - HGNC]
  • LOC116309125:CRISPRi-validated cis-regulatory element chr21.1536 [Gene]
  • LOC108281151:FAM207A intron CAGE-defined mid-level expression enhancer [Gene]
  • ITGB2-AS1:ITGB2 antisense RNA 1 [Gene - HGNC]
  • LOC126653401:MED14-independent group 3 enhancer GRCh37_chr21:46699476-46700675 [Gene]
  • LOC125418085:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:46431794-46432993 [Gene]
  • LOC112694752:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:46783494-46784693 [Gene]
  • PICSAR:P38 inhibited cutaneous squamous cell carcinoma associated lincRNA [Gene - OMIM - HGNC]
  • PTTG1IP:PTTG1 interacting protein [Gene - OMIM - HGNC]
  • SLX9:SLX9 ribosome biogenesis factor [Gene - HGNC]
  • LOC125418084:Sharpr-MPRA regulatory region 2317 [Gene]
  • LOC121627926:Sharpr-MPRA regulatory region 4412 [Gene]
  • LOC121627925:Sharpr-MPRA regulatory region 5612 [Gene]
  • LOC125418083:Sharpr-MPRA regulatory region 676 [Gene]
  • LOC112694751:Sharpr-MPRA regulatory region 850 [Gene]
  • TSPEAR-AS2:TSPEAR antisense RNA 2 [Gene - HGNC]
  • ADARB1:adenosine deaminase RNA specific B1 [Gene - OMIM - HGNC]
  • BNAT1:breast cancer associated ESR1 regulating natural antisense transcript 1 [Gene - HGNC]
  • COL18A1:collagen type XVIII alpha 1 chain [Gene - OMIM - HGNC]
  • ITGB2:integrin subunit beta 2 [Gene - OMIM - HGNC]
  • KRTAP10-10:keratin associated protein 10-10 [Gene - HGNC]
  • KRTAP10-11:keratin associated protein 10-11 [Gene - HGNC]
  • KRTAP10-12:keratin associated protein 10-12 [Gene - HGNC]
  • KRTAP10-1:keratin associated protein 10-1 [Gene - HGNC]
  • KRTAP10-2:keratin associated protein 10-2 [Gene - HGNC]
  • KRTAP10-3:keratin associated protein 10-3 [Gene - HGNC]
  • KRTAP10-4:keratin associated protein 10-4 [Gene - HGNC]
  • KRTAP10-5:keratin associated protein 10-5 [Gene - HGNC]
  • KRTAP10-6:keratin associated protein 10-6 [Gene - HGNC]
  • KRTAP10-7:keratin associated protein 10-7 [Gene - HGNC]
  • KRTAP10-8:keratin associated protein 10-8 [Gene - HGNC]
  • KRTAP10-9:keratin associated protein 10-9 [Gene - HGNC]
  • KRTAP12-1:keratin associated protein 12-1 [Gene - HGNC]
  • KRTAP12-2:keratin associated protein 12-2 [Gene - HGNC]
  • KRTAP12-3:keratin associated protein 12-3 [Gene - HGNC]
  • KRTAP12-4:keratin associated protein 12-4 [Gene - HGNC]
  • LINC01424:long intergenic non-protein coding RNA 1424 [Gene - HGNC]
  • LINC01547:long intergenic non-protein coding RNA 1547 [Gene - HGNC]
  • LINC00163:long intergenic non-protein coding RNA 163 [Gene - OMIM - HGNC]
  • LINC00165:long intergenic non-protein coding RNA 165 [Gene - HGNC]
  • LINC00205:long intergenic non-protein coding RNA 205 [Gene - HGNC]
  • LINC00315:long intergenic non-protein coding RNA 315 [Gene - HGNC]
  • LINC00316:long intergenic non-protein coding RNA 316 [Gene - HGNC]
  • LINC00334:long intergenic non-protein coding RNA 334 [Gene - HGNC]
  • POFUT2:protein O-fucosyltransferase 2 [Gene - OMIM - HGNC]
  • SUMO3:small ubiquitin like modifier 3 [Gene - OMIM - HGNC]
  • TSPEAR:thrombospondin type laminin G domain and EAR repeats [Gene - OMIM - HGNC]
  • UBE2G2:ubiquitin conjugating enzyme E2 G2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
GRCh38/hg38 21q22.3(chr21:44516679-45409275)x1
HGVS:
  • NC_000021.9:g.(?_44516679)_(45409275_?)del
  • NC_000021.7:g.(?_44760990)_(45653618_?)del
  • NC_000021.8:g.(?_45936562)_(46829190_?)del
Links:
dbVar: nssv3395210; dbVar: nsv996058
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
SCV000183487ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Dec 3, 2013) 		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, SCV000183487.4

#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