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GRCh38/hg38 21q22.3(chr21:45877354-46543273)x3 AND See cases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 4, 2011
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:
RCV000137820.5

Allele description [Variation Report for GRCh38/hg38 21q22.3(chr21:45877354-46543273)x3]

GRCh38/hg38 21q22.3(chr21:45877354-46543273)x3

Genes:
  • LOC130066865:ATAC-STARR-seq lymphoblastoid active region 18596 [Gene]
  • LOC130066866:ATAC-STARR-seq lymphoblastoid active region 18597 [Gene]
  • LOC130066867:ATAC-STARR-seq lymphoblastoid active region 18598 [Gene]
  • LOC130066871:ATAC-STARR-seq lymphoblastoid active region 18599 [Gene]
  • LOC130066874:ATAC-STARR-seq lymphoblastoid active region 18600 [Gene]
  • LOC130066877:ATAC-STARR-seq lymphoblastoid active region 18601 [Gene]
  • LOC130066878:ATAC-STARR-seq lymphoblastoid active region 18602 [Gene]
  • LOC130066879:ATAC-STARR-seq lymphoblastoid active region 18603 [Gene]
  • LOC130066880:ATAC-STARR-seq lymphoblastoid active region 18604 [Gene]
  • LOC130066883:ATAC-STARR-seq lymphoblastoid active region 18605 [Gene]
  • LOC130066884:ATAC-STARR-seq lymphoblastoid active region 18606 [Gene]
  • LOC130066864:ATAC-STARR-seq lymphoblastoid silent region 13412 [Gene]
  • LOC130066868:ATAC-STARR-seq lymphoblastoid silent region 13413 [Gene]
  • LOC130066869:ATAC-STARR-seq lymphoblastoid silent region 13414 [Gene]
  • LOC130066870:ATAC-STARR-seq lymphoblastoid silent region 13416 [Gene]
  • LOC130066872:ATAC-STARR-seq lymphoblastoid silent region 13417 [Gene]
  • LOC130066873:ATAC-STARR-seq lymphoblastoid silent region 13418 [Gene]
  • LOC130066875:ATAC-STARR-seq lymphoblastoid silent region 13419 [Gene]
  • LOC130066876:ATAC-STARR-seq lymphoblastoid silent region 13420 [Gene]
  • LOC130066881:ATAC-STARR-seq lymphoblastoid silent region 13421 [Gene]
  • LOC130066882:ATAC-STARR-seq lymphoblastoid silent region 13422 [Gene]
  • COL6A2-DT:COL6A2 divergent transcript [Gene - HGNC]
  • DIP2A-IT1:DIP2A intronic transcript 1 [Gene - HGNC]
  • FTCD-AS1:FTCD antisense RNA 1 [Gene - HGNC]
  • MCM3AP-AS1:MCM3AP antisense RNA 1 [Gene - HGNC]
  • LOC129391254:MPRA-validated peak4431 silencer [Gene]
  • LOC121853033:Sharpr-MPRA regulatory region 12001 [Gene]
  • LOC112694754:Sharpr-MPRA regulatory region 1466 [Gene]
  • LOC125418088:Sharpr-MPRA regulatory region 3768 [Gene]
  • LOC112694753:Sharpr-MPRA regulatory region 3947 [Gene]
  • LOC121853034:Sharpr-MPRA regulatory region 4411 [Gene]
  • LOC125418087:Sharpr-MPRA regulatory region 9072 [Gene]
  • C21orf58:chromosome 21 open reading frame 58 [Gene - HGNC]
  • COL6A1:collagen type VI alpha 1 chain [Gene - OMIM - HGNC]
  • COL6A2:collagen type VI alpha 2 chain [Gene - OMIM - HGNC]
  • DIP2A:disco interacting protein 2 homolog A [Gene - OMIM - HGNC]
  • FTCD:formimidoyltransferase cyclodeaminase [Gene - OMIM - HGNC]
  • LSS:lanosterol synthase [Gene - OMIM - HGNC]
  • MCM3AP:minichromosome maintenance complex component 3 associated protein [Gene - OMIM - HGNC]
  • PCNT:pericentrin [Gene - OMIM - HGNC]
  • PCBP3:poly(rC) binding protein 3 [Gene - OMIM - HGNC]
  • SNORD159:small nucleolar RNA, C/D box 159 [Gene - HGNC]
  • SPATC1L:spermatogenesis and centriole associated 1 like [Gene - OMIM - HGNC]
  • LOC101928796:uncharacterized LOC101928796 [Gene]
  • LOC128092249:uncharacterized LOC128092249 [Gene]
  • YBEY:ybeY metalloendoribonuclease [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
GRCh38/hg38 21q22.3(chr21:45877354-46543273)x3
HGVS:
  • NC_000021.9:g.(?_45877354)_(46543273_?)dup
  • NC_000021.7:g.(?_46121696)_(46787614_?)dup
  • NC_000021.8:g.(?_47297268)_(47963186_?)dup
Links:
dbVar: nssv1495567; dbVar: nsv869002
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
SCV000178072ISCA site 1

See additional submitters

no assertion criteria provided
Likely benign
(Nov 4, 2011) 		paternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not 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, SCV000178072.4

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

Last Updated: May 7, 2024