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GRCh38/hg38 13q14.11(chr13:39860568-43580405)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 14, 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:
RCV000142892.5

Allele description [Variation Report for GRCh38/hg38 13q14.11(chr13:39860568-43580405)x3]

GRCh38/hg38 13q14.11(chr13:39860568-43580405)x3

Genes:
  • AKAP11:A-kinase anchoring protein 11 [Gene - OMIM - HGNC]
  • LOC130009595:ATAC-STARR-seq lymphoblastoid active region 7599 [Gene]
  • LOC130009596:ATAC-STARR-seq lymphoblastoid active region 7600 [Gene]
  • LOC130009597:ATAC-STARR-seq lymphoblastoid active region 7601 [Gene]
  • LOC130009598:ATAC-STARR-seq lymphoblastoid active region 7602 [Gene]
  • LOC130009599:ATAC-STARR-seq lymphoblastoid active region 7603 [Gene]
  • LOC130009600:ATAC-STARR-seq lymphoblastoid active region 7604 [Gene]
  • LOC130009602:ATAC-STARR-seq lymphoblastoid active region 7608 [Gene]
  • LOC130009603:ATAC-STARR-seq lymphoblastoid active region 7609 [Gene]
  • LOC130009604:ATAC-STARR-seq lymphoblastoid active region 7610 [Gene]
  • LOC130009605:ATAC-STARR-seq lymphoblastoid active region 7611 [Gene]
  • LOC130009606:ATAC-STARR-seq lymphoblastoid active region 7612 [Gene]
  • LOC130009612:ATAC-STARR-seq lymphoblastoid active region 7613 [Gene]
  • LOC130009614:ATAC-STARR-seq lymphoblastoid active region 7614 [Gene]
  • LOC130009615:ATAC-STARR-seq lymphoblastoid active region 7615 [Gene]
  • LOC130009617:ATAC-STARR-seq lymphoblastoid active region 7616 [Gene]
  • LOC130009619:ATAC-STARR-seq lymphoblastoid active region 7618 [Gene]
  • LOC130009620:ATAC-STARR-seq lymphoblastoid active region 7619 [Gene]
  • LOC130009621:ATAC-STARR-seq lymphoblastoid active region 7620 [Gene]
  • LOC130009622:ATAC-STARR-seq lymphoblastoid active region 7621 [Gene]
  • LOC130009623:ATAC-STARR-seq lymphoblastoid active region 7623 [Gene]
  • LOC130009624:ATAC-STARR-seq lymphoblastoid active region 7624 [Gene]
  • LOC130009626:ATAC-STARR-seq lymphoblastoid active region 7625 [Gene]
  • LOC130009627:ATAC-STARR-seq lymphoblastoid active region 7626 [Gene]
  • LOC130009630:ATAC-STARR-seq lymphoblastoid active region 7629 [Gene]
  • LOC130009631:ATAC-STARR-seq lymphoblastoid active region 7630 [Gene]
  • LOC130009632:ATAC-STARR-seq lymphoblastoid active region 7631 [Gene]
  • LOC130009633:ATAC-STARR-seq lymphoblastoid active region 7632 [Gene]
  • LOC130009635:ATAC-STARR-seq lymphoblastoid active region 7633 [Gene]
  • LOC130009636:ATAC-STARR-seq lymphoblastoid active region 7634 [Gene]
  • LOC130009637:ATAC-STARR-seq lymphoblastoid active region 7635 [Gene]
  • LOC130009638:ATAC-STARR-seq lymphoblastoid active region 7636 [Gene]
  • LOC130009640:ATAC-STARR-seq lymphoblastoid active region 7637 [Gene]
  • LOC130009644:ATAC-STARR-seq lymphoblastoid active region 7638 [Gene]
  • LOC130009646:ATAC-STARR-seq lymphoblastoid active region 7639 [Gene]
  • LOC130009648:ATAC-STARR-seq lymphoblastoid active region 7640 [Gene]
  • LOC130009649:ATAC-STARR-seq lymphoblastoid active region 7641 [Gene]
  • LOC130009650:ATAC-STARR-seq lymphoblastoid active region 7642 [Gene]
  • LOC130009651:ATAC-STARR-seq lymphoblastoid active region 7643 [Gene]
  • LOC130009652:ATAC-STARR-seq lymphoblastoid active region 7644 [Gene]
  • LOC130009654:ATAC-STARR-seq lymphoblastoid active region 7645 [Gene]
  • LOC130009655:ATAC-STARR-seq lymphoblastoid active region 7646 [Gene]
  • LOC130009657:ATAC-STARR-seq lymphoblastoid active region 7648 [Gene]
  • LOC130009658:ATAC-STARR-seq lymphoblastoid active region 7649 [Gene]
  • LOC130009659:ATAC-STARR-seq lymphoblastoid active region 7650 [Gene]
  • LOC130009660:ATAC-STARR-seq lymphoblastoid active region 7651 [Gene]
  • LOC130009661:ATAC-STARR-seq lymphoblastoid active region 7652 [Gene]
  • LOC130009663:ATAC-STARR-seq lymphoblastoid active region 7653 [Gene]
  • LOC130009664:ATAC-STARR-seq lymphoblastoid active region 7654 [Gene]
  • LOC130009665:ATAC-STARR-seq lymphoblastoid active region 7655 [Gene]
  • LOC130009666:ATAC-STARR-seq lymphoblastoid active region 7656 [Gene]
  • LOC130009667:ATAC-STARR-seq lymphoblastoid active region 7657 [Gene]
  • LOC130009668:ATAC-STARR-seq lymphoblastoid active region 7658 [Gene]
  • LOC130009669:ATAC-STARR-seq lymphoblastoid active region 7659 [Gene]
  • LOC130009670:ATAC-STARR-seq lymphoblastoid active region 7660 [Gene]
  • LOC130009671:ATAC-STARR-seq lymphoblastoid active region 7661 [Gene]
  • LOC130009672:ATAC-STARR-seq lymphoblastoid active region 7662 [Gene]
  • LOC130009673:ATAC-STARR-seq lymphoblastoid active region 7663 [Gene]
  • LOC130009674:ATAC-STARR-seq lymphoblastoid active region 7664 [Gene]
  • LOC130009675:ATAC-STARR-seq lymphoblastoid active region 7665 [Gene]
  • LOC130009676:ATAC-STARR-seq lymphoblastoid active region 7666 [Gene]
  • LOC130009677:ATAC-STARR-seq lymphoblastoid active region 7667 [Gene]
  • LOC130009678:ATAC-STARR-seq lymphoblastoid active region 7668 [Gene]
  • LOC130009679:ATAC-STARR-seq lymphoblastoid active region 7669 [Gene]
  • LOC130009601:ATAC-STARR-seq lymphoblastoid silent region 5279 [Gene]
  • LOC130009607:ATAC-STARR-seq lymphoblastoid silent region 5280 [Gene]
  • LOC130009608:ATAC-STARR-seq lymphoblastoid silent region 5281 [Gene]
  • LOC130009609:ATAC-STARR-seq lymphoblastoid silent region 5282 [Gene]
  • LOC130009610:ATAC-STARR-seq lymphoblastoid silent region 5283 [Gene]
  • LOC130009611:ATAC-STARR-seq lymphoblastoid silent region 5284 [Gene]
  • LOC130009613:ATAC-STARR-seq lymphoblastoid silent region 5285 [Gene]
  • LOC130009616:ATAC-STARR-seq lymphoblastoid silent region 5286 [Gene]
  • LOC130009618:ATAC-STARR-seq lymphoblastoid silent region 5287 [Gene]
  • LOC130009625:ATAC-STARR-seq lymphoblastoid silent region 5288 [Gene]
  • LOC130009628:ATAC-STARR-seq lymphoblastoid silent region 5289 [Gene]
  • LOC130009629:ATAC-STARR-seq lymphoblastoid silent region 5290 [Gene]
  • LOC130009634:ATAC-STARR-seq lymphoblastoid silent region 5292 [Gene]
  • LOC130009639:ATAC-STARR-seq lymphoblastoid silent region 5293 [Gene]
  • LOC130009641:ATAC-STARR-seq lymphoblastoid silent region 5294 [Gene]
  • LOC130009642:ATAC-STARR-seq lymphoblastoid silent region 5295 [Gene]
  • LOC130009643:ATAC-STARR-seq lymphoblastoid silent region 5296 [Gene]
  • LOC130009645:ATAC-STARR-seq lymphoblastoid silent region 5297 [Gene]
  • LOC130009647:ATAC-STARR-seq lymphoblastoid silent region 5298 [Gene]
  • LOC130009653:ATAC-STARR-seq lymphoblastoid silent region 5299 [Gene]
  • LOC130009656:ATAC-STARR-seq lymphoblastoid silent region 5300 [Gene]
  • LOC130009662:ATAC-STARR-seq lymphoblastoid silent region 5301 [Gene]
  • LOC126861747:BRD4-independent group 4 enhancer GRCh37_chr13:41092118-41093317 [Gene]
  • LOC126861749:BRD4-independent group 4 enhancer GRCh37_chr13:42872570-42873769 [Gene]
  • LOC126861750:BRD4-independent group 4 enhancer GRCh37_chr13:42933453-42934652 [Gene]
  • LOC126861751:BRD4-independent group 4 enhancer GRCh37_chr13:42979722-42980921 [Gene]
  • LOC126861752:BRD4-independent group 4 enhancer GRCh37_chr13:43155073-43156272 [Gene]
  • LOC126861746:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:40572319-40573518 [Gene]
  • LOC116268455:CRISPRi-validated cis-regulatory element chr13.544 [Gene]
  • LOC116268456:CRISPRi-validated cis-regulatory element chr13.545 [Gene]
  • DNAJC15:DnaJ heat shock protein family (Hsp40) member C15 [Gene - OMIM - HGNC]
  • ELF1:E74 like ETS transcription factor 1 [Gene - OMIM - HGNC]
  • ENOX1-AS2:ENOX1 antisense RNA 2 [Gene - HGNC]
  • LOC111562370:FOXA motif-containing MPRA enhancer 169 [Gene]
  • KBTBD6-DT:KBTBD6 divergent transcript [Gene - HGNC]
  • LOC108281153:LINC00400 intron CAGE-defined mid-level expression enhancer [Gene]
  • LOC108318668:LINC00598 intron ENCODE-defined enhancer [Gene]
  • LOC126861748:MED14-independent group 3 enhancer GRCh37_chr13:42376466-42377665 [Gene]
  • NAA16:N-alpha-acetyltransferase 16, NatA auxiliary subunit [Gene - OMIM - HGNC]
  • LOC132090194:Neanderthal introgressed variant-containing enhancer experimental_32874 [Gene]
  • LOC126861753:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:43174688-43175887 [Gene]
  • LOC126861754:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:43336737-43337936 [Gene]
  • LOC108175343:SUGT1P3 overlapping homotypic cluster of transcription factor binding sites enhancer [Gene]
  • LOC124855092:Sharpr-MPRA regulatory region 12795 [Gene]
  • LOC124855095:Sharpr-MPRA regulatory region 14917 [Gene]
  • LOC112163656:Sharpr-MPRA regulatory region 5068 [Gene]
  • LOC124855093:Sharpr-MPRA regulatory region 5240 [Gene]
  • LOC124855094:Sharpr-MPRA regulatory region 5362 [Gene]
  • LOC121466732:Sharpr-MPRA regulatory region 6237 [Gene]
  • LOC124855091:Sharpr-MPRA regulatory region 6999 [Gene]
  • LOC124855090:Sharpr-MPRA regulatory region 8959 [Gene]
  • TNFSF11:TNF superfamily member 11 [Gene - OMIM - HGNC]
  • LOC110121359:VISTA enhancer hs1393 [Gene]
  • VWA8-AS1:VWA8 antisense RNA 1 (head to head) [Gene - HGNC]
  • WBP4:WW domain binding protein 4 [Gene - OMIM - HGNC]
  • DGKH:diacylglycerol kinase eta [Gene - OMIM - HGNC]
  • ENOX1:ecto-NOX disulfide-thiol exchanger 1 [Gene - OMIM - HGNC]
  • EPSTI1:epithelial stromal interaction 1 [Gene - OMIM - HGNC]
  • FAM216B:family with sequence similarity 216 member B [Gene - HGNC]
  • FOXO1:forkhead box O1 [Gene - OMIM - HGNC]
  • KBTBD6:kelch repeat and BTB domain containing 6 [Gene - OMIM - HGNC]
  • KBTBD7:kelch repeat and BTB domain containing 7 [Gene - OMIM - HGNC]
  • LINC01050:long intergenic non-protein coding RNA 1050 [Gene - HGNC]
  • LINC02341:long intergenic non-protein coding RNA 2341 [Gene - HGNC]
  • LINC00332:long intergenic non-protein coding RNA 332 [Gene - HGNC]
  • LINC00400:long intergenic non-protein coding RNA 400 [Gene - HGNC]
  • LINC00428:long intergenic non-protein coding RNA 428 [Gene - HGNC]
  • LINC00548:long intergenic non-protein coding RNA 548 [Gene - HGNC]
  • LINC00598:long intergenic non-protein coding RNA 598 [Gene - OMIM - HGNC]
  • MIR3168:microRNA 3168 [Gene - HGNC]
  • MIR320D1:microRNA 320d-1 [Gene - HGNC]
  • MIR5006:microRNA 5006 [Gene - HGNC]
  • MIR621:microRNA 621 [Gene - HGNC]
  • MRPS31:mitochondrial ribosomal protein S31 [Gene - OMIM - HGNC]
  • MTRF1:mitochondrial translation release factor 1 [Gene - OMIM - HGNC]
  • RGCC:regulator of cell cycle [Gene - OMIM - HGNC]
  • SLC25A15:solute carrier family 25 member 15 [Gene - OMIM - HGNC]
  • TRE-TTC1-2:tRNA-Glu (anticodon TTC) 1-2 [Gene - HGNC]
  • VWA8:von Willebrand factor A domain containing 8 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
13q14.11
Genomic location:
Preferred name:
GRCh38/hg38 13q14.11(chr13:39860568-43580405)x3
HGVS:
  • NC_000013.11:g.(?_39860568)_(43580405_?)dup
  • NC_000013.10:g.(?_40434705)_(44154541_?)dup
  • NC_000013.9:g.(?_39332705)_(43052541_?)dup
Links:
dbVar: nssv1602480; dbVar: nsv915995
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
SCV000179112ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Aug 14, 2012) 		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, SCV000179112.4

#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