U.S. flag

An official website of the United States government

GRCh38/hg38 8q23.3-24.11(chr8:116497730-117379167)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 14, 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:
RCV000142553.6

Allele description [Variation Report for GRCh38/hg38 8q23.3-24.11(chr8:116497730-117379167)x1]

GRCh38/hg38 8q23.3-24.11(chr8:116497730-117379167)x1

Genes:
  • LOC130000986:ATAC-STARR-seq lymphoblastoid active region 27825 [Gene]
  • LOC130000987:ATAC-STARR-seq lymphoblastoid active region 27826 [Gene]
  • LOC130000988:ATAC-STARR-seq lymphoblastoid active region 27827 [Gene]
  • LOC130000989:ATAC-STARR-seq lymphoblastoid active region 27828 [Gene]
  • LOC130000990:ATAC-STARR-seq lymphoblastoid active region 27830 [Gene]
  • LOC130000991:ATAC-STARR-seq lymphoblastoid active region 27831 [Gene]
  • LOC130000994:ATAC-STARR-seq lymphoblastoid active region 27832 [Gene]
  • LOC130000995:ATAC-STARR-seq lymphoblastoid active region 27833 [Gene]
  • LOC130000996:ATAC-STARR-seq lymphoblastoid active region 27834 [Gene]
  • LOC130000992:ATAC-STARR-seq lymphoblastoid silent region 19473 [Gene]
  • LOC130000993:ATAC-STARR-seq lymphoblastoid silent region 19474 [Gene]
  • LOC130000997:ATAC-STARR-seq lymphoblastoid silent region 19475 [Gene]
  • RAD21-AS1:RAD21 antisense RNA 1 [Gene - HGNC]
  • RAD21:RAD21 cohesin complex component [Gene - OMIM - HGNC]
  • LOC121331310:Sharpr-MPRA regulatory region 10947 [Gene]
  • UTP23:UTP23 small subunit processome component [Gene - HGNC]
  • AARD:alanine and arginine rich domain containing protein [Gene - HGNC]
  • EIF3H:eukaryotic translation initiation factor 3 subunit H [Gene - OMIM - HGNC]
  • MIR3610:microRNA 3610 [Gene - HGNC]
  • SLC30A8:solute carrier family 30 member 8 [Gene - OMIM - HGNC]
  • LOC105375713:uncharacterized LOC105375713 [Gene]
Variant type:
copy number loss
Cytogenetic location:
8q23.3-24.11
Genomic location:
Preferred name:
GRCh38/hg38 8q23.3-24.11(chr8:116497730-117379167)x1
HGVS:
  • NC_000008.11:g.(?_116497730)_(117379167_?)del
  • NC_000008.10:g.(?_117509968)_(118391406_?)del
  • NC_000008.9:g.(?_117579149)_(118460587_?)del
Links:
dbVar: nssv706237; dbVar: nsv530386
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
SCV000175428ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Jan 14, 2011) 		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, SCV000175428.4

#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