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GRCh38/hg38 8q24.13(chr8:125089748-125243024)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 4, 2012
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:
RCV000139653.5

Allele description [Variation Report for GRCh38/hg38 8q24.13(chr8:125089748-125243024)x1]

GRCh38/hg38 8q24.13(chr8:125089748-125243024)x1

Genes:
  • LOC130001093:ATAC-STARR-seq lymphoblastoid active region 27899 [Gene]
  • LOC130001094:ATAC-STARR-seq lymphoblastoid active region 27900 [Gene]
  • LOC130001095:ATAC-STARR-seq lymphoblastoid active region 27901 [Gene]
  • LOC130001096:ATAC-STARR-seq lymphoblastoid active region 27902 [Gene]
  • LOC130001097:ATAC-STARR-seq lymphoblastoid active region 27903 [Gene]
  • LOC130001098:ATAC-STARR-seq lymphoblastoid active region 27904 [Gene]
  • LOC130001099:ATAC-STARR-seq lymphoblastoid active region 27905 [Gene]
  • LOC130001100:ATAC-STARR-seq lymphoblastoid active region 27906 [Gene]
  • LOC130001101:ATAC-STARR-seq lymphoblastoid active region 27907 [Gene]
  • LOC130001092:ATAC-STARR-seq lymphoblastoid silent region 19517 [Gene]
  • LOC126860499:BRD4-independent group 4 enhancer GRCh37_chr8:126201101-126202300 [Gene]
  • LOC111365183:HNF1 motif-containing MPRA enhancer 31 [Gene]
  • NSMCE2:NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase [Gene - OMIM - HGNC]
  • WASHC5:WASH complex subunit 5 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
8q24.13
Genomic location:
Preferred name:
GRCh38/hg38 8q24.13(chr8:125089748-125243024)x1
HGVS:
  • NC_000008.11:g.(?_125089748)_(125243024_?)del
  • NC_000008.10:g.(?_126101990)_(126255266_?)del
  • NC_000008.9:g.(?_126171172)_(126324448_?)del
Links:
dbVar: nssv1605194; dbVar: nsv917158
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
SCV000180239ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Jun 4, 2012) 		not providedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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, SCV000180239.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023