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GRCh38/hg38 21q22.3(chr21:45084236-45991858)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000052831.5

Allele description [Variation Report for GRCh38/hg38 21q22.3(chr21:45084236-45991858)x3]

GRCh38/hg38 21q22.3(chr21:45084236-45991858)x3

Genes:
  • LOC130066849:ATAC-STARR-seq lymphoblastoid active region 18586 [Gene]
  • LOC130066851:ATAC-STARR-seq lymphoblastoid active region 18590 [Gene]
  • LOC130066852:ATAC-STARR-seq lymphoblastoid active region 18591 [Gene]
  • LOC130066860:ATAC-STARR-seq lymphoblastoid active region 18594 [Gene]
  • LOC130066861:ATAC-STARR-seq lymphoblastoid active region 18595 [Gene]
  • LOC130066865:ATAC-STARR-seq lymphoblastoid active region 18596 [Gene]
  • LOC130066848:ATAC-STARR-seq lymphoblastoid silent region 13400 [Gene]
  • LOC130066850:ATAC-STARR-seq lymphoblastoid silent region 13401 [Gene]
  • LOC130066853:ATAC-STARR-seq lymphoblastoid silent region 13402 [Gene]
  • LOC130066854:ATAC-STARR-seq lymphoblastoid silent region 13403 [Gene]
  • LOC130066855:ATAC-STARR-seq lymphoblastoid silent region 13405 [Gene]
  • LOC130066856:ATAC-STARR-seq lymphoblastoid silent region 13406 [Gene]
  • LOC130066857:ATAC-STARR-seq lymphoblastoid silent region 13407 [Gene]
  • LOC130066858:ATAC-STARR-seq lymphoblastoid silent region 13408 [Gene]
  • LOC130066859:ATAC-STARR-seq lymphoblastoid silent region 13409 [Gene]
  • LOC130066862:ATAC-STARR-seq lymphoblastoid silent region 13410 [Gene]
  • LOC130066863:ATAC-STARR-seq lymphoblastoid silent region 13411 [Gene]
  • LOC130066864:ATAC-STARR-seq lymphoblastoid silent region 13412 [Gene]
  • LOC126653402:BRD4-independent group 4 enhancer GRCh37_chr21:46785000-46786199 [Gene]
  • LOC126653404:BRD4-independent group 4 enhancer GRCh37_chr21:47278335-47279534 [Gene]
  • COL18A1-AS1:COL18A1 antisense RNA 1 [Gene - HGNC]
  • COL18A1-AS2:COL18A1 antisense RNA 2 [Gene - HGNC]
  • LOC116309125:CRISPRi-validated cis-regulatory element chr21.1536 [Gene]
  • LOC126653401:MED14-independent group 3 enhancer GRCh37_chr21:46699476-46700675 [Gene]
  • LOC126653403:MED14-independent group 3 enhancer GRCh37_chr21:47053121-47054320 [Gene]
  • LOC129391251:MPRA-validated peak4424 silencer [Gene]
  • LOC129391252:MPRA-validated peak4426 silencer [Gene]
  • LOC129391253:MPRA-validated peak4427 silencer [Gene]
  • LOC112694752:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:46783494-46784693 [Gene]
  • PCBP3-AS1:PCBP3 antisense RNA 1 [Gene - HGNC]
  • LOC121627927:Sharpr-MPRA regulatory region 1559 [Gene]
  • LOC121627926:Sharpr-MPRA regulatory region 4412 [Gene]
  • LOC125418086:Sharpr-MPRA regulatory region 7423 [Gene]
  • LOC125418087:Sharpr-MPRA regulatory region 9072 [Gene]
  • ADARB1:adenosine deaminase RNA specific B1 [Gene - OMIM - HGNC]
  • BNAT1:breast cancer associated ESR1 regulating natural antisense transcript 1 [Gene - HGNC]
  • COL6A1:collagen type VI alpha 1 chain [Gene - OMIM - HGNC]
  • COL18A1:collagen type XVIII alpha 1 chain [Gene - OMIM - HGNC]
  • LINC01694:long intergenic non-protein coding RNA 1694 [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]
  • MIR6815:microRNA 6815 [Gene - HGNC]
  • PCBP3:poly(rC) binding protein 3 [Gene - OMIM - HGNC]
  • POFUT2:protein O-fucosyltransferase 2 [Gene - OMIM - HGNC]
  • SLC19A1:solute carrier family 19 member 1 [Gene - OMIM - HGNC]
  • LOC101928796:uncharacterized LOC101928796 [Gene]
Variant type:
copy number gain
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
GRCh38/hg38 21q22.3(chr21:45084236-45991858)x3
HGVS:
  • NC_000021.9:g.(?_45084236)_(45991858_?)dup
  • NC_000021.7:g.(?_45328579)_(46236200_?)dup
  • NC_000021.8:g.(?_46504151)_(47411772_?)dup
Links:
dbVar: nssv581063; dbVar: nsv531546
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
SCV000080185GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Uncertain significance
(Aug 12, 2011) 		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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000080185.5

#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