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GRCh38/hg38 13q12.11(chr13:20234405-20796089)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 26, 2012
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:
RCV000141229.5

Allele description [Variation Report for GRCh38/hg38 13q12.11(chr13:20234405-20796089)x3]

GRCh38/hg38 13q12.11(chr13:20234405-20796089)x3

Genes:
  • LOC130009316:ATAC-STARR-seq lymphoblastoid active region 7418 [Gene]
  • LOC130009317:ATAC-STARR-seq lymphoblastoid active region 7419 [Gene]
  • LOC130009318:ATAC-STARR-seq lymphoblastoid active region 7420 [Gene]
  • LOC130009319:ATAC-STARR-seq lymphoblastoid active region 7421 [Gene]
  • LOC130009320:ATAC-STARR-seq lymphoblastoid active region 7422 [Gene]
  • LOC130009321:ATAC-STARR-seq lymphoblastoid active region 7423 [Gene]
  • LOC130009323:ATAC-STARR-seq lymphoblastoid active region 7424 [Gene]
  • LOC130009324:ATAC-STARR-seq lymphoblastoid active region 7425 [Gene]
  • LOC130009329:ATAC-STARR-seq lymphoblastoid active region 7426 [Gene]
  • LOC130009322:ATAC-STARR-seq lymphoblastoid silent region 5153 [Gene]
  • LOC130009325:ATAC-STARR-seq lymphoblastoid silent region 5154 [Gene]
  • LOC130009326:ATAC-STARR-seq lymphoblastoid silent region 5155 [Gene]
  • LOC130009327:ATAC-STARR-seq lymphoblastoid silent region 5156 [Gene]
  • LOC130009328:ATAC-STARR-seq lymphoblastoid silent region 5157 [Gene]
  • LOC126861704:BRD4-independent group 4 enhancer GRCh37_chr13:20953976-20955175 [Gene]
  • LOC126861705:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:20993166-20994365 [Gene]
  • EEF1AKMT1:EEF1A lysine methyltransferase 1 [Gene - OMIM - HGNC]
  • LOC132090175:Neanderthal introgressed variant-containing enhancer experimental_32461 [Gene]
  • LOC124849292:Sharpr-MPRA regulatory region 1468 [Gene]
  • LOC121466728:Sharpr-MPRA regulatory region 3329 [Gene]
  • LOC112163647:Sharpr-MPRA regulatory region 6807 [Gene]
  • CRYL1:crystallin lambda 1 [Gene - OMIM - HGNC]
  • XPO4:exportin 4 [Gene - OMIM - HGNC]
  • IL17D:interleukin 17D [Gene - OMIM - HGNC]
  • IFT88:intraflagellar transport 88 [Gene - OMIM - HGNC]
  • MIR4499:microRNA 4499 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
13q12.11
Genomic location:
Preferred name:
GRCh38/hg38 13q12.11(chr13:20234405-20796089)x3
HGVS:
  • NC_000013.11:g.(?_20234405)_(20796089_?)dup
  • NC_000013.10:g.(?_20808544)_(21370228_?)dup
  • NC_000013.9:g.(?_19706544)_(20268228_?)dup
Links:
dbVar: nssv1608853; dbVar: nsv932625
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
SCV000182113ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Sep 26, 2012) 		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, SCV000182113.4

#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