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GRCh38/hg38 4q13.2(chr4:68501374-69255507)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 3, 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:
RCV000143578.5

Allele description [Variation Report for GRCh38/hg38 4q13.2(chr4:68501374-69255507)x3]

GRCh38/hg38 4q13.2(chr4:68501374-69255507)x3

Genes:
  • LOC129992656:ATAC-STARR-seq lymphoblastoid silent region 15466 [Gene]
  • LOC126807070:BRD4-independent group 4 enhancer GRCh37_chr4:69795178-69796377 [Gene]
  • LOC111589210:FOXA motif-containing MPRA enhancer 238 [Gene]
  • LOC129389214:MPRA-validated peak5046 silencer [Gene]
  • LOC129389215:MPRA-validated peak5051 silencer [Gene]
  • 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]
  • UGT2B15:UDP glucuronosyltransferase family 2 member B15 [Gene - OMIM - HGNC]
  • UGT2B17:UDP glucuronosyltransferase family 2 member B17 [Gene - OMIM - HGNC]
  • UGT2B7:UDP glucuronosyltransferase family 2 member B7 [Gene - OMIM - HGNC]
  • LOC114803476:UGT2B7 (B) eExon liver enhancer [Gene]
  • LOC105377267:uncharacterized LOC105377267 [Gene]
Variant type:
copy number gain
Cytogenetic location:
4q13.2
Genomic location:
Preferred name:
GRCh38/hg38 4q13.2(chr4:68501374-69255507)x3
HGVS:
  • NC_000004.12:g.(?_68501374)_(69255507_?)dup
  • NC_000004.11:g.(?_69367092)_(70121225_?)dup
Links:
dbVar: nssv3394972; dbVar: nsv995769
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
SCV000183196ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Sep 3, 2013) 		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, SCV000183196.4

#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