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GRCh38/hg38 8q21.2-21.3(chr8:85833750-86478465)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 28, 2013
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:
RCV000143209.6

Allele description [Variation Report for GRCh38/hg38 8q21.2-21.3(chr8:85833750-86478465)x3]

GRCh38/hg38 8q21.2-21.3(chr8:85833750-86478465)x3

Genes:
  • LOC130000698:ATAC-STARR-seq lymphoblastoid silent region 19341 [Gene]
  • ATP6V0D2:ATPase H+ transporting V0 subunit d2 [Gene - OMIM - HGNC]
  • LOC126860434:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:87014581-87015780 [Gene]
  • LOC111429611:GATA motif-containing MPRA enhancer 208 [Gene]
  • LOC111365182:HNF4 motif-containing MPRA enhancer 29 [Gene]
  • LOC129390019:MPRA-validated peak7094 silencer [Gene]
  • LOC124174285:Sharpr-MPRA regulatory region 4822 [Gene]
  • WWP1:WW domain containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • PSKH2:protein serine kinase H2 [Gene - OMIM - HGNC]
  • RMDN1:regulator of microtubule dynamics 1 [Gene - OMIM - HGNC]
  • SLC7A13:solute carrier family 7 member 13 [Gene - OMIM - HGNC]
  • LOC105375623:uncharacterized LOC105375623 [Gene]
Variant type:
copy number gain
Cytogenetic location:
8q21.2-21.3
Genomic location:
Preferred name:
GRCh38/hg38 8q21.2-21.3(chr8:85833750-86478465)x3
HGVS:
  • NC_000008.11:g.(?_85833750)_(86478465_?)dup
  • NC_000008.10:g.(?_86845979)_(87490694_?)dup
  • NC_000008.9:g.(?_86915079)_(87559810_?)dup
Links:
dbVar: nssv1610206; dbVar: nsv932023
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
SCV000181506ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Jan 28, 2013) 		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, SCV000181506.4

#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