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GRCh38/hg38 4q13.2-13.3(chr4:68799852-69853815)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 19, 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:
RCV000143121.5

Allele description [Variation Report for GRCh38/hg38 4q13.2-13.3(chr4:68799852-69853815)x3]

GRCh38/hg38 4q13.2-13.3(chr4:68799852-69853815)x3

Genes:
  • LOC129992657:ATAC-STARR-seq lymphoblastoid active region 21599 [Gene]
  • LOC129992656:ATAC-STARR-seq lymphoblastoid silent region 15466 [Gene]
  • LOC129992658:ATAC-STARR-seq lymphoblastoid silent region 15467 [Gene]
  • LOC126807070:BRD4-independent group 4 enhancer GRCh37_chr4:69795178-69796377 [Gene]
  • LOC111589210:FOXA motif-containing MPRA enhancer 238 [Gene]
  • LOC126807071:MED14-independent group 3 enhancer GRCh37_chr4:70522042-70523241 [Gene]
  • LOC129389214:MPRA-validated peak5046 silencer [Gene]
  • LOC129389215:MPRA-validated peak5051 silencer [Gene]
  • LOC129389216:MPRA-validated peak5052 silencer [Gene]
  • LOC129389217:MPRA-validated peak5054 silencer [Gene]
  • LOC129389218:MPRA-validated peak5055 silencer [Gene]
  • LOC112978669:Sharpr-MPRA regulatory region 10246 [Gene]
  • UGT2A1:UDP glucuronosyltransferase family 2 member A1 complex locus [Gene - OMIM - HGNC]
  • UGT2A2:UDP glucuronosyltransferase family 2 member A2 [Gene - OMIM - HGNC]
  • UGT2A3:UDP glucuronosyltransferase family 2 member A3 [Gene - OMIM - HGNC]
  • UGT2B10:UDP glucuronosyltransferase family 2 member B10 [Gene - OMIM - HGNC]
  • UGT2B11:UDP glucuronosyltransferase family 2 member B11 [Gene - OMIM - HGNC]
  • UGT2B28:UDP glucuronosyltransferase family 2 member B28 [Gene - OMIM - HGNC]
  • UGT2B4:UDP glucuronosyltransferase family 2 member B4 [Gene - OMIM - HGNC]
  • UGT2B7:UDP glucuronosyltransferase family 2 member B7 [Gene - OMIM - HGNC]
  • LOC114803476:UGT2B7 (B) eExon liver enhancer [Gene]
  • SULT1B1:sulfotransferase family 1B member 1 [Gene - OMIM - HGNC]
  • SULT1E1:sulfotransferase family 1E member 1 [Gene - OMIM - HGNC]
  • LOC105377267:uncharacterized LOC105377267 [Gene]
Variant type:
copy number gain
Cytogenetic location:
4q13.2-13.3
Genomic location:
Preferred name:
GRCh38/hg38 4q13.2-13.3(chr4:68799852-69853815)x3
HGVS:
  • NC_000004.12:g.(?_68799852)_(69853815_?)dup
  • NC_000004.11:g.(?_69665570)_(70719533_?)dup
Links:
dbVar: nssv1608278; dbVar: nsv931090
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
SCV000180588ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Mar 19, 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, SCV000180588.4

#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