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GRCh38/hg38 21q21.3(chr21:26773248-29573178)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 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:
RCV000143779.5

Allele description [Variation Report for GRCh38/hg38 21q21.3(chr21:26773248-29573178)x1]

GRCh38/hg38 21q21.3(chr21:26773248-29573178)x1

Genes:
  • ADAMTS1:ADAM metallopeptidase with thrombospondin type 1 motif 1 [Gene - OMIM - HGNC]
  • ADAMTS5:ADAM metallopeptidase with thrombospondin type 1 motif 5 [Gene - OMIM - HGNC]
  • LOC130066502:ATAC-STARR-seq lymphoblastoid active region 18322 [Gene]
  • LOC130066503:ATAC-STARR-seq lymphoblastoid active region 18324 [Gene]
  • LOC130066504:ATAC-STARR-seq lymphoblastoid active region 18325 [Gene]
  • LOC130066505:ATAC-STARR-seq lymphoblastoid active region 18326 [Gene]
  • LOC130066506:ATAC-STARR-seq lymphoblastoid active region 18327 [Gene]
  • LOC130066507:ATAC-STARR-seq lymphoblastoid active region 18328 [Gene]
  • LOC130066508:ATAC-STARR-seq lymphoblastoid active region 18329 [Gene]
  • LOC130066509:ATAC-STARR-seq lymphoblastoid active region 18330 [Gene]
  • LOC130066510:ATAC-STARR-seq lymphoblastoid active region 18333 [Gene]
  • LOC130066511:ATAC-STARR-seq lymphoblastoid active region 18335 [Gene]
  • LOC130066512:ATAC-STARR-seq lymphoblastoid active region 18336 [Gene]
  • LOC130066513:ATAC-STARR-seq lymphoblastoid active region 18337 [Gene]
  • LOC130066514:ATAC-STARR-seq lymphoblastoid active region 18338 [Gene]
  • LOC130066515:ATAC-STARR-seq lymphoblastoid active region 18339 [Gene]
  • LOC130066517:ATAC-STARR-seq lymphoblastoid active region 18340 [Gene]
  • LOC130066518:ATAC-STARR-seq lymphoblastoid active region 18341 [Gene]
  • LOC130066519:ATAC-STARR-seq lymphoblastoid active region 18343 [Gene]
  • LOC130066520:ATAC-STARR-seq lymphoblastoid active region 18344 [Gene]
  • LOC130066521:ATAC-STARR-seq lymphoblastoid active region 18345 [Gene]
  • LOC130066522:ATAC-STARR-seq lymphoblastoid active region 18346 [Gene]
  • LOC130066523:ATAC-STARR-seq lymphoblastoid active region 18347 [Gene]
  • LOC130066525:ATAC-STARR-seq lymphoblastoid active region 18348 [Gene]
  • LOC130066516:ATAC-STARR-seq lymphoblastoid silent region 13237 [Gene]
  • LOC130066524:ATAC-STARR-seq lymphoblastoid silent region 13238 [Gene]
  • BACH1-IT2:BACH1 intronic transcript 2 [Gene - HGNC]
  • BACH1-IT3:BACH1 intronic transcript 3 [Gene - HGNC]
  • BACH1:BTB domain and CNC homolog 1 [Gene - OMIM - HGNC]
  • LOC126653336:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:30447741-30448940 [Gene]
  • LOC126653338:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:30714441-30715640 [Gene]
  • MAP3K7CL:MAP3K7 C-terminal like [Gene - OMIM - HGNC]
  • LOC126653334:MED14-independent group 3 enhancer GRCh37_chr21:28214275-28215474 [Gene]
  • LOC126653335:MED14-independent group 3 enhancer GRCh37_chr21:30206496-30207695 [Gene]
  • LOC126653337:MED14-independent group 3 enhancer GRCh37_chr21:30568347-30569546 [Gene]
  • LOC129391240:MPRA-validated peak4395 silencer [Gene]
  • N6AMT1:N-6 adenine-specific DNA methyltransferase 1 [Gene - OMIM - HGNC]
  • LOC132090916:Neanderthal introgressed variant-containing enhancer experimental_61884 [Gene]
  • LOC132090917:Neanderthal introgressed variant-containing enhancer experimental_61891 [Gene]
  • RWDD2B:RWD domain containing 2B [Gene - OMIM - HGNC]
  • LOC125418057:Sharpr-MPRA regulatory region 12458 [Gene]
  • LOC125418056:Sharpr-MPRA regulatory region 14833 [Gene]
  • LOC112694735:Sharpr-MPRA regulatory region 4059 [Gene]
  • LOC125418054:Sharpr-MPRA regulatory region 7095 [Gene]
  • LOC125418055:Sharpr-MPRA regulatory region 7516 [Gene]
  • LOC110121429:VISTA enhancer hs1684 [Gene]
  • CCT8:chaperonin containing TCP1 subunit 8 [Gene - OMIM - HGNC]
  • GRIK1:glutamate ionotropic receptor kainate type subunit 1 [Gene - OMIM - HGNC]
  • LTN1:listerin E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • LINC00113:long intergenic non-protein coding RNA 113 [Gene - HGNC]
  • LINC00161:long intergenic non-protein coding RNA 161 [Gene - HGNC]
  • LINC01673:long intergenic non-protein coding RNA 1673 [Gene - HGNC]
  • LINC01695:long intergenic non-protein coding RNA 1695 [Gene - HGNC]
  • LINC01697:long intergenic non-protein coding RNA 1697 [Gene - HGNC]
  • LINC00189:long intergenic non-protein coding RNA 189 [Gene - HGNC]
  • LINC00314:long intergenic non-protein coding RNA 314 [Gene - HGNC]
  • MIR4759:microRNA 4759 [Gene - HGNC]
  • USP16:ubiquitin specific peptidase 16 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
21q21.3
Genomic location:
Preferred name:
GRCh38/hg38 21q21.3(chr21:26773248-29573178)x1
HGVS:
  • NC_000021.9:g.(?_26773248)_(29573178_?)del
  • NC_000021.7:g.(?_27067438)_(29867369_?)del
  • NC_000021.8:g.(?_28145567)_(30945498_?)del
Links:
dbVar: nssv3395497; dbVar: nsv996286
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
SCV000183716ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Mar 18, 2014) 		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 1, SCV000183716.4

#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