U.S. flag

An official website of the United States government

GRCh38/hg38 21q22.3(chr21:43427322-43837467)x1 AND See cases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 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:
RCV000143569.6

Allele description [Variation Report for GRCh38/hg38 21q22.3(chr21:43427322-43837467)x1]

GRCh38/hg38 21q22.3(chr21:43427322-43837467)x1

Genes:
  • LOC130066781:ATAC-STARR-seq lymphoblastoid active region 18544 [Gene]
  • LOC130066782:ATAC-STARR-seq lymphoblastoid active region 18545 [Gene]
  • LOC130066784:ATAC-STARR-seq lymphoblastoid active region 18546 [Gene]
  • LOC130066787:ATAC-STARR-seq lymphoblastoid active region 18547 [Gene]
  • LOC130066790:ATAC-STARR-seq lymphoblastoid active region 18548 [Gene]
  • LOC130066792:ATAC-STARR-seq lymphoblastoid active region 18549 [Gene]
  • LOC130066793:ATAC-STARR-seq lymphoblastoid active region 18550 [Gene]
  • LOC130066794:ATAC-STARR-seq lymphoblastoid active region 18551 [Gene]
  • LOC130066779:ATAC-STARR-seq lymphoblastoid silent region 13361 [Gene]
  • LOC130066780:ATAC-STARR-seq lymphoblastoid silent region 13362 [Gene]
  • LOC130066783:ATAC-STARR-seq lymphoblastoid silent region 13363 [Gene]
  • LOC130066785:ATAC-STARR-seq lymphoblastoid silent region 13364 [Gene]
  • LOC130066786:ATAC-STARR-seq lymphoblastoid silent region 13365 [Gene]
  • LOC130066788:ATAC-STARR-seq lymphoblastoid silent region 13368 [Gene]
  • LOC130066789:ATAC-STARR-seq lymphoblastoid silent region 13369 [Gene]
  • LOC130066791:ATAC-STARR-seq lymphoblastoid silent region 13370 [Gene]
  • H2BC12L:H2B clustered histone 12 like [Gene - HGNC]
  • LOC108254685:PDXK-CSTB intergenic CAGE-defined low expression enhancer [Gene]
  • LOC108281139:RRP1B-PDXK intergenic CAGE-defined mid-level expression enhancer [Gene]
  • LOC108251799:SIK1-LINC00319 intergenic CAGE-defined high expression enhancer [Gene]
  • LOC125418081:Sharpr-MPRA regulatory region 10850 [Gene]
  • LOC112694750:Sharpr-MPRA regulatory region 13752 [Gene]
  • LOC121853031:Sharpr-MPRA regulatory region 2841 [Gene]
  • AATBC:apoptosis associated transcript in bladder cancer [Gene - HGNC]
  • LOC109029533:cystatin B upstream repeat instability region [Gene]
  • CSTB:cystatin B [Gene - OMIM - HGNC]
  • HSF2BP:heat shock transcription factor 2 binding protein [Gene - OMIM - HGNC]
  • LINC00313:long intergenic non-protein coding RNA 313 [Gene - HGNC]
  • LINC00319:long intergenic non-protein coding RNA 319 [Gene - HGNC]
  • MIR6070:microRNA 6070 [Gene - HGNC]
  • PDXK:pyridoxal kinase [Gene - OMIM - HGNC]
  • RRP1:ribosomal RNA processing 1 [Gene - OMIM - HGNC]
  • RRP1B:ribosomal RNA processing 1B [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
GRCh38/hg38 21q22.3(chr21:43427322-43837467)x1
HGVS:
  • NC_000021.9:g.(?_43427322)_(43837467_?)del
  • NC_000021.7:g.(?_43671630)_(44081776_?)del
  • NC_000021.8:g.(?_44847202)_(45257348_?)del
Links:
dbVar: nssv3394971; dbVar: nsv995768
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000183195ISCA site 1

See additional submitters

no assertion criteria provided
Likely benign
(Jul 18, 2014) 		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, SCV000183195.4

#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