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GRCh38/hg38 8p22(chr8:13302159-14802548)x3 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:
RCV000143500.8

Allele description [Variation Report for GRCh38/hg38 8p22(chr8:13302159-14802548)x3]

GRCh38/hg38 8p22(chr8:13302159-14802548)x3

Genes:
  • LOC126860306:BRD4-independent group 4 enhancer GRCh37_chr8:13223844-13225043 [Gene]
  • DLC1:DLC1 Rho GTPase activating protein [Gene - OMIM - HGNC]
  • 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]
  • LOC132089579:Neanderthal introgressed variant-containing enhancer experimental_102145 [Gene]
  • LOC132089580:Neanderthal introgressed variant-containing enhancer experimental_102166 [Gene]
  • LOC132089581:Neanderthal introgressed variant-containing enhancer experimental_102220 [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]
  • LOC121294073:Sharpr-MPRA regulatory region 1875 [Gene]
  • C8orf48:chromosome 8 open reading frame 48 [Gene - HGNC]
  • SGCZ:sarcoglycan zeta [Gene - OMIM - HGNC]
  • LOC102725080:uncharacterized LOC102725080 [Gene]
  • LOC105379292:uncharacterized LOC105379292 [Gene]
Variant type:
copy number gain
Cytogenetic location:
8p22
Genomic location:
Preferred name:
GRCh38/hg38 8p22(chr8:13302159-14802548)x3
HGVS:
  • NC_000008.11:g.(?_13302159)_(14802548_?)dup
  • NC_000008.10:g.(?_13159668)_(14660057_?)dup
Links:
dbVar: nssv3397123; dbVar: nsv995528
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
SCV000182951ISCA site 1

See additional submitters

no assertion criteria provided
Likely benign
(Jul 18, 2014) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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, SCV000182951.4

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

Last Updated: May 7, 2024