U.S. flag

An official website of the United States government

GRCh38/hg38 8p23.1-22(chr8:12728904-14368722)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 22, 2010
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:
RCV000137151.7

Allele description [Variation Report for GRCh38/hg38 8p23.1-22(chr8:12728904-14368722)x3]

GRCh38/hg38 8p23.1-22(chr8:12728904-14368722)x3

Genes:
  • LOC129999920:ATAC-STARR-seq lymphoblastoid active region 27043 [Gene]
  • LOC129999921:ATAC-STARR-seq lymphoblastoid active region 27044 [Gene]
  • LOC129999922:ATAC-STARR-seq lymphoblastoid active region 27045 [Gene]
  • LOC129999918:ATAC-STARR-seq lymphoblastoid silent region 18950 [Gene]
  • LOC129999919:ATAC-STARR-seq lymphoblastoid silent region 18951 [Gene]
  • LOC129999923:ATAC-STARR-seq lymphoblastoid silent region 18955 [Gene]
  • LOC129999924:ATAC-STARR-seq lymphoblastoid silent region 18956 [Gene]
  • LOC129999925:ATAC-STARR-seq lymphoblastoid silent region 18957 [Gene]
  • LOC126860306:BRD4-independent group 4 enhancer GRCh37_chr8:13223844-13225043 [Gene]
  • DLC1:DLC1 Rho GTPase activating protein [Gene - OMIM - HGNC]
  • LONRF1:LON peptidase N-terminal domain and ring finger 1 [Gene - HGNC]
  • LOC126860305:MED14-independent group 3 enhancer GRCh37_chr8:12947375-12948574 [Gene]
  • LOC132090783:Neanderthal introgressed variant-containing enhancer experimental_101206 [Gene]
  • LOC132089561:Neanderthal introgressed variant-containing enhancer experimental_101305 [Gene]
  • LOC132089562:Neanderthal introgressed variant-containing enhancer experimental_101359 [Gene]
  • LOC132089563:Neanderthal introgressed variant-containing enhancer experimental_101439 [Gene]
  • LOC132089564:Neanderthal introgressed variant-containing enhancer experimental_101469 [Gene]
  • LOC132089565:Neanderthal introgressed variant-containing enhancer experimental_101507 [Gene]
  • LOC132089566:Neanderthal introgressed variant-containing enhancer experimental_101599 [Gene]
  • LOC132089567:Neanderthal introgressed variant-containing enhancer experimental_101611 [Gene]
  • LOC132089568:Neanderthal introgressed variant-containing enhancer experimental_101653 [Gene]
  • LOC132089569:Neanderthal introgressed variant-containing enhancer experimental_101701 [Gene]
  • LOC132089570:Neanderthal introgressed variant-containing enhancer experimental_101766 [Gene]
  • LOC132089571:Neanderthal introgressed variant-containing enhancer experimental_101789 [Gene]
  • LOC132089572:Neanderthal introgressed variant-containing enhancer experimental_101818 [Gene]
  • LOC132089573:Neanderthal introgressed variant-containing enhancer experimental_101852 [Gene]
  • LOC132089574:Neanderthal introgressed variant-containing enhancer experimental_101878 [Gene]
  • LOC132089575:Neanderthal introgressed variant-containing enhancer experimental_101891 [Gene]
  • LOC132089576:Neanderthal introgressed variant-containing enhancer experimental_101912 [Gene]
  • LOC132089577:Neanderthal introgressed variant-containing enhancer experimental_101932 [Gene]
  • LOC132089578:Neanderthal introgressed variant-containing enhancer experimental_102128 [Gene]
  • LOC132205968:Neanderthal introgressed variant-containing enhancers experimental_101563 and experimental_101568 [Gene]
  • LOC132205969:Neanderthal introgressed variant-containing enhancers experimental_102032 and experimental_102034 [Gene]
  • LOC124049166:Sharpr-MPRA regulatory region 1393 [Gene]
  • C8orf48:chromosome 8 open reading frame 48 [Gene - HGNC]
  • LINC03019:long intergenic non-protein coding RNA 3019 [Gene - HGNC]
  • LINC00681:long intergenic non-protein coding RNA 681 [Gene - HGNC]
  • SGCZ:sarcoglycan zeta [Gene - OMIM - HGNC]
  • TRMT9B:tRNA methyltransferase 9B (putative) [Gene - OMIM - HGNC]
  • LOC102725080:uncharacterized LOC102725080 [Gene]
  • LOC105379292:uncharacterized LOC105379292 [Gene]
Variant type:
copy number gain
Cytogenetic location:
8p23.1-22
Genomic location:
Preferred name:
GRCh38/hg38 8p23.1-22(chr8:12728904-14368722)x3
HGVS:
  • NC_000008.11:g.(?_12728904)_(14368722_?)dup
  • NC_000008.10:g.(?_12586413)_(14226231_?)dup
  • NC_000008.9:g.(?_12630784)_(14270602_?)dup
Links:
dbVar: nssv583190; dbVar: nsv534579
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
SCV000177357ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Dec 22, 2010) 		unknownclinical 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, SCV000177357.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024