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GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000050612.7

Allele description [Variation Report for GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3]

GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3

Genes:
  • LOC130001452:ATAC-STARR-seq lymphoblastoid active region 28126 [Gene]
  • LOC130001453:ATAC-STARR-seq lymphoblastoid active region 28127 [Gene]
  • LOC130001454:ATAC-STARR-seq lymphoblastoid active region 28128 [Gene]
  • LOC130001455:ATAC-STARR-seq lymphoblastoid active region 28129 [Gene]
  • LOC130001456:ATAC-STARR-seq lymphoblastoid active region 28130 [Gene]
  • LOC130001457:ATAC-STARR-seq lymphoblastoid active region 28131 [Gene]
  • LOC130001458:ATAC-STARR-seq lymphoblastoid active region 28132 [Gene]
  • LOC130001459:ATAC-STARR-seq lymphoblastoid active region 28133 [Gene]
  • LOC130001460:ATAC-STARR-seq lymphoblastoid active region 28134 [Gene]
  • LOC130001465:ATAC-STARR-seq lymphoblastoid active region 28135 [Gene]
  • LOC130001466:ATAC-STARR-seq lymphoblastoid active region 28136 [Gene]
  • LOC130001467:ATAC-STARR-seq lymphoblastoid active region 28137 [Gene]
  • LOC130001473:ATAC-STARR-seq lymphoblastoid active region 28139 [Gene]
  • LOC130001475:ATAC-STARR-seq lymphoblastoid active region 28141 [Gene]
  • LOC130001476:ATAC-STARR-seq lymphoblastoid active region 28142 [Gene]
  • LOC130001477:ATAC-STARR-seq lymphoblastoid active region 28143 [Gene]
  • LOC130001478:ATAC-STARR-seq lymphoblastoid active region 28144 [Gene]
  • LOC130001479:ATAC-STARR-seq lymphoblastoid active region 28145 [Gene]
  • LOC130001481:ATAC-STARR-seq lymphoblastoid active region 28146 [Gene]
  • LOC130001483:ATAC-STARR-seq lymphoblastoid active region 28147 [Gene]
  • LOC130001487:ATAC-STARR-seq lymphoblastoid active region 28148 [Gene]
  • LOC130001490:ATAC-STARR-seq lymphoblastoid active region 28149 [Gene]
  • LOC130001492:ATAC-STARR-seq lymphoblastoid active region 28150 [Gene]
  • LOC130001493:ATAC-STARR-seq lymphoblastoid active region 28152 [Gene]
  • LOC130001494:ATAC-STARR-seq lymphoblastoid active region 28153 [Gene]
  • LOC130001495:ATAC-STARR-seq lymphoblastoid active region 28154 [Gene]
  • LOC130001498:ATAC-STARR-seq lymphoblastoid active region 28156 [Gene]
  • LOC130001499:ATAC-STARR-seq lymphoblastoid active region 28157 [Gene]
  • LOC130001500:ATAC-STARR-seq lymphoblastoid active region 28159 [Gene]
  • LOC130001501:ATAC-STARR-seq lymphoblastoid active region 28160 [Gene]
  • LOC130001502:ATAC-STARR-seq lymphoblastoid active region 28161 [Gene]
  • LOC130001503:ATAC-STARR-seq lymphoblastoid active region 28163 [Gene]
  • LOC130001504:ATAC-STARR-seq lymphoblastoid active region 28164 [Gene]
  • LOC130001505:ATAC-STARR-seq lymphoblastoid active region 28165 [Gene]
  • LOC130001506:ATAC-STARR-seq lymphoblastoid active region 28167 [Gene]
  • LOC130001507:ATAC-STARR-seq lymphoblastoid active region 28168 [Gene]
  • LOC130001508:ATAC-STARR-seq lymphoblastoid active region 28169 [Gene]
  • LOC130001509:ATAC-STARR-seq lymphoblastoid active region 28170 [Gene]
  • LOC130001511:ATAC-STARR-seq lymphoblastoid active region 28171 [Gene]
  • LOC130001512:ATAC-STARR-seq lymphoblastoid active region 28172 [Gene]
  • LOC130001513:ATAC-STARR-seq lymphoblastoid active region 28173 [Gene]
  • LOC130001514:ATAC-STARR-seq lymphoblastoid active region 28174 [Gene]
  • LOC130001515:ATAC-STARR-seq lymphoblastoid active region 28175 [Gene]
  • LOC130001517:ATAC-STARR-seq lymphoblastoid active region 28176 [Gene]
  • LOC130001520:ATAC-STARR-seq lymphoblastoid active region 28177 [Gene]
  • LOC130001521:ATAC-STARR-seq lymphoblastoid active region 28178 [Gene]
  • LOC130001522:ATAC-STARR-seq lymphoblastoid active region 28179 [Gene]
  • LOC130001525:ATAC-STARR-seq lymphoblastoid active region 28180 [Gene]
  • LOC130001527:ATAC-STARR-seq lymphoblastoid active region 28181 [Gene]
  • LOC130001529:ATAC-STARR-seq lymphoblastoid active region 28182 [Gene]
  • LOC130001530:ATAC-STARR-seq lymphoblastoid active region 28183 [Gene]
  • LOC130001531:ATAC-STARR-seq lymphoblastoid active region 28185 [Gene]
  • LOC130001536:ATAC-STARR-seq lymphoblastoid active region 28186 [Gene]
  • LOC130001537:ATAC-STARR-seq lymphoblastoid active region 28187 [Gene]
  • LOC130001538:ATAC-STARR-seq lymphoblastoid active region 28191 [Gene]
  • LOC130001540:ATAC-STARR-seq lymphoblastoid active region 28192 [Gene]
  • LOC130001541:ATAC-STARR-seq lymphoblastoid active region 28193 [Gene]
  • LOC130001542:ATAC-STARR-seq lymphoblastoid active region 28198 [Gene]
  • LOC130001543:ATAC-STARR-seq lymphoblastoid active region 28199 [Gene]
  • LOC130001544:ATAC-STARR-seq lymphoblastoid active region 28200 [Gene]
  • LOC130001545:ATAC-STARR-seq lymphoblastoid active region 28201 [Gene]
  • LOC130001546:ATAC-STARR-seq lymphoblastoid active region 28202 [Gene]
  • LOC130001547:ATAC-STARR-seq lymphoblastoid active region 28203 [Gene]
  • LOC130001548:ATAC-STARR-seq lymphoblastoid active region 28204 [Gene]
  • LOC130001549:ATAC-STARR-seq lymphoblastoid active region 28205 [Gene]
  • LOC130001550:ATAC-STARR-seq lymphoblastoid active region 28206 [Gene]
  • LOC130001553:ATAC-STARR-seq lymphoblastoid active region 28207 [Gene]
  • LOC130001554:ATAC-STARR-seq lymphoblastoid active region 28209 [Gene]
  • LOC130001556:ATAC-STARR-seq lymphoblastoid active region 28210 [Gene]
  • LOC130001557:ATAC-STARR-seq lymphoblastoid active region 28213 [Gene]
  • LOC130001461:ATAC-STARR-seq lymphoblastoid silent region 19728 [Gene]
  • LOC130001462:ATAC-STARR-seq lymphoblastoid silent region 19729 [Gene]
  • LOC130001463:ATAC-STARR-seq lymphoblastoid silent region 19730 [Gene]
  • LOC130001464:ATAC-STARR-seq lymphoblastoid silent region 19731 [Gene]
  • LOC130001468:ATAC-STARR-seq lymphoblastoid silent region 19733 [Gene]
  • LOC130001469:ATAC-STARR-seq lymphoblastoid silent region 19734 [Gene]
  • LOC130001470:ATAC-STARR-seq lymphoblastoid silent region 19735 [Gene]
  • LOC130001471:ATAC-STARR-seq lymphoblastoid silent region 19736 [Gene]
  • LOC130001472:ATAC-STARR-seq lymphoblastoid silent region 19737 [Gene]
  • LOC130001474:ATAC-STARR-seq lymphoblastoid silent region 19740 [Gene]
  • LOC130001480:ATAC-STARR-seq lymphoblastoid silent region 19741 [Gene]
  • LOC130001482:ATAC-STARR-seq lymphoblastoid silent region 19742 [Gene]
  • LOC130001484:ATAC-STARR-seq lymphoblastoid silent region 19743 [Gene]
  • LOC130001485:ATAC-STARR-seq lymphoblastoid silent region 19744 [Gene]
  • LOC130001486:ATAC-STARR-seq lymphoblastoid silent region 19745 [Gene]
  • LOC130001488:ATAC-STARR-seq lymphoblastoid silent region 19746 [Gene]
  • LOC130001489:ATAC-STARR-seq lymphoblastoid silent region 19747 [Gene]
  • LOC130001491:ATAC-STARR-seq lymphoblastoid silent region 19748 [Gene]
  • LOC130001496:ATAC-STARR-seq lymphoblastoid silent region 19749 [Gene]
  • LOC130001497:ATAC-STARR-seq lymphoblastoid silent region 19752 [Gene]
  • LOC130001510:ATAC-STARR-seq lymphoblastoid silent region 19753 [Gene]
  • LOC130001516:ATAC-STARR-seq lymphoblastoid silent region 19754 [Gene]
  • LOC130001518:ATAC-STARR-seq lymphoblastoid silent region 19755 [Gene]
  • LOC130001519:ATAC-STARR-seq lymphoblastoid silent region 19756 [Gene]
  • LOC130001523:ATAC-STARR-seq lymphoblastoid silent region 19757 [Gene]
  • LOC130001524:ATAC-STARR-seq lymphoblastoid silent region 19758 [Gene]
  • LOC130001526:ATAC-STARR-seq lymphoblastoid silent region 19759 [Gene]
  • LOC130001528:ATAC-STARR-seq lymphoblastoid silent region 19762 [Gene]
  • LOC130001532:ATAC-STARR-seq lymphoblastoid silent region 19763 [Gene]
  • LOC130001533:ATAC-STARR-seq lymphoblastoid silent region 19764 [Gene]
  • LOC130001534:ATAC-STARR-seq lymphoblastoid silent region 19765 [Gene]
  • LOC130001535:ATAC-STARR-seq lymphoblastoid silent region 19766 [Gene]
  • LOC130001539:ATAC-STARR-seq lymphoblastoid silent region 19769 [Gene]
  • LOC130001551:ATAC-STARR-seq lymphoblastoid silent region 19770 [Gene]
  • LOC130001552:ATAC-STARR-seq lymphoblastoid silent region 19771 [Gene]
  • LOC130001555:ATAC-STARR-seq lymphoblastoid silent region 19772 [Gene]
  • LOC130001558:ATAC-STARR-seq lymphoblastoid silent region 19773 [Gene]
  • LOC126860576:BRD4-independent group 4 enhancer GRCh37_chr9:7712804-7714003 [Gene]
  • LOC126860577:BRD4-independent group 4 enhancer GRCh37_chr9:7756151-7757350 [Gene]
  • LOC126860579:BRD4-independent group 4 enhancer GRCh37_chr9:9998786-9999985 [Gene]
  • CD274:CD274 molecule [Gene - OMIM - HGNC]
  • CDC37L1-DT:CDC37L1 divergent transcript [Gene - HGNC]
  • LOC126860555:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:1928727-1929926 [Gene]
  • LOC126860559:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:3674142-3675341 [Gene]
  • LOC126860560:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:3862633-3863832 [Gene]
  • LOC126860561:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:3927295-3928494 [Gene]
  • LOC126860564:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:4329035-4330234 [Gene]
  • LOC126860567:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:5509079-5510278 [Gene]
  • LOC126860568:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:5762408-5763607 [Gene]
  • LOC126860570:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:6084860-6086059 [Gene]
  • GLIS3:GLIS family zinc finger 3 [Gene - OMIM - HGNC]
  • GLIS3-AS1:GLIS3 antisense RNA 1 [Gene - HGNC]
  • GLIS3-AS2:GLIS3 antisense RNA 2 [Gene - HGNC]
  • LOC108281132:GLIS3 intron CAGE-defined low expression enhancer [Gene]
  • LOC111413010:HNF4 motif-containing MPRA enhancer 135 [Gene]
  • LOC107882132:INSL4 promoter region [Gene]
  • JAK2:Janus kinase 2 [Gene - OMIM - HGNC]
  • LOC126860557:MED14-independent group 3 enhancer GRCh37_chr9:2361801-2363000 [Gene]
  • LOC126860558:MED14-independent group 3 enhancer GRCh37_chr9:3478271-3479470 [Gene]
  • LOC126860562:MED14-independent group 3 enhancer GRCh37_chr9:3968328-3969527 [Gene]
  • LOC126860565:MED14-independent group 3 enhancer GRCh37_chr9:4605494-4606693 [Gene]
  • LOC126860569:MED14-independent group 3 enhancer GRCh37_chr9:5909826-5911025 [Gene]
  • LOC126860571:MED14-independent group 3 enhancer GRCh37_chr9:6086910-6088109 [Gene]
  • LOC126860575:MED14-independent group 3 enhancer GRCh37_chr9:7433352-7434551 [Gene]
  • LOC126860578:MED14-independent group 3 enhancer GRCh37_chr9:8485393-8486592 [Gene]
  • LOC126860556:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:2260567-2261766 [Gene]
  • LOC126860563:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:4136663-4137862 [Gene]
  • LOC126860566:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:5437227-5438426 [Gene]
  • LOC126860572:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:6152686-6153885 [Gene]
  • LOC126860573:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:6566198-6567397 [Gene]
  • LOC126860574:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:7319761-7320960 [Gene]
  • PTPRD-AS1:PTPRD antisense RNA 1 [Gene - HGNC]
  • PTPRD-DT:PTPRD divergent transcript [Gene - HGNC]
  • RANBP6:RAN binding protein 6 [Gene - HGNC]
  • RFX3-DT:RFX3 divergent transcript [Gene - HGNC]
  • RIC1:RIC1 homolog, RAB6A GEF complex partner 1 [Gene - OMIM - HGNC]
  • RCL1:RNA terminal phosphate cyclase like 1 [Gene - OMIM - HGNC]
  • SMARCA2:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 [Gene - OMIM - HGNC]
  • LOC124210611:Sharpr-MPRA regulatory region 10284 [Gene]
  • LOC113839554:Sharpr-MPRA regulatory region 10661 [Gene]
  • LOC121740739:Sharpr-MPRA regulatory region 12609 [Gene]
  • LOC121331316:Sharpr-MPRA regulatory region 13837 [Gene]
  • LOC124210614:Sharpr-MPRA regulatory region 1388 [Gene]
  • LOC124210610:Sharpr-MPRA regulatory region 14111 [Gene]
  • LOC114022704:Sharpr-MPRA regulatory region 14989 [Gene]
  • LOC121811699:Sharpr-MPRA regulatory region 1681 [Gene]
  • LOC111465019:Sharpr-MPRA regulatory region 2314 [Gene]
  • LOC113839544:Sharpr-MPRA regulatory region 29 [Gene]
  • LOC121331317:Sharpr-MPRA regulatory region 3194 [Gene]
  • LOC124210613:Sharpr-MPRA regulatory region 3353 [Gene]
  • LOC121331318:Sharpr-MPRA regulatory region 3538 [Gene]
  • LOC121331319:Sharpr-MPRA regulatory region 4294 [Gene]
  • LOC124210607:Sharpr-MPRA regulatory region 5035 [Gene]
  • LOC124210609:Sharpr-MPRA regulatory region 5337 [Gene]
  • LOC121740738:Sharpr-MPRA regulatory region 6053 [Gene]
  • LOC124210612:Sharpr-MPRA regulatory region 6415 [Gene]
  • LOC124210615:Sharpr-MPRA regulatory region 873 [Gene]
  • LOC124210606:Sharpr-MPRA regulatory region 8982 [Gene]
  • LOC121811698:Sharpr-MPRA regulatory region 9164 [Gene]
  • LOC124210608:Sharpr-MPRA regulatory region 9529 [Gene]
  • TPD52L3:TPD52 like 3 [Gene - OMIM - HGNC]
  • LOC110121072:VISTA enhancer hs1350 [Gene]
  • LOC110121197:VISTA enhancer hs1743 [Gene]
  • LOC110120655:VISTA enhancer hs304 [Gene]
  • VLDLR-AS1:VLDLR antisense RNA 1 [Gene - HGNC]
  • AK3:adenylate kinase 3 [Gene - OMIM - HGNC]
  • BRD10:bromodomain containing 10 [Gene - HGNC]
  • CDC37L1:cell division cycle 37 like 1, HSP90 cochaperone [Gene - OMIM - HGNC]
  • DMAC1:distal membrane arm assembly component 1 [Gene - OMIM - HGNC]
  • ERMP1:endoplasmic reticulum metallopeptidase 1 [Gene - OMIM - HGNC]
  • GLDC:glycine decarboxylase [Gene - OMIM - HGNC]
  • INSL4:insulin like 4 [Gene - OMIM - HGNC]
  • INSL6:insulin like 6 [Gene - OMIM - HGNC]
  • IL33:interleukin 33 [Gene - OMIM - HGNC]
  • LINC01231:long intergenic non-protein coding RNA 1231 [Gene - HGNC]
  • LINC02851:long intergenic non-protein coding RNA 2851 [Gene - HGNC]
  • KDM4C:lysine demethylase 4C [Gene - OMIM - HGNC]
  • LOC107522029:meiotic recombination hotspot U [Gene]
  • MLANA:melan-A [Gene - OMIM - HGNC]
  • MIR101-2:microRNA 101-2 [Gene - OMIM - HGNC]
  • MIR4665:microRNA 4665 [Gene - HGNC]
  • PLPP6:phospholipid phosphatase 6 [Gene - OMIM - HGNC]
  • PLGRKT:plasminogen receptor with a C-terminal lysine [Gene - OMIM - HGNC]
  • KCNV2:potassium voltage-gated channel modifier subfamily V member 2 [Gene - OMIM - HGNC]
  • PDCD1LG2:programmed cell death 1 ligand 2 [Gene - OMIM - HGNC]
  • PTPRD:protein tyrosine phosphatase receptor type D [Gene - OMIM - HGNC]
  • PUM3:pumilio RNA binding family member 3 [Gene - OMIM - HGNC]
  • RFX3:regulatory factor X3 [Gene - OMIM - HGNC]
  • RLN1:relaxin 1 [Gene - OMIM - HGNC]
  • RLN2:relaxin 2 [Gene - OMIM - HGNC]
  • SLC1A1:solute carrier family 1 member 1 [Gene - OMIM - HGNC]
  • SPATA6L:spermatogenesis associated 6 like [Gene - HGNC]
  • UHRF2:ubiquitin like with PHD and ring finger domains 2 [Gene - OMIM - HGNC]
  • LOC105375972:uncharacterized LOC105375972 [Gene]
  • LOC105375976:uncharacterized LOC105375976 [Gene]
  • VLDLR:very low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
9p24.3-23
Genomic location:
Preferred name:
GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3
HGVS:
  • NC_000009.12:g.(?_1592306)_(12387899_?)dup
  • NC_000009.10:g.(?_1582306)_(12377899_?)dup
  • NC_000009.11:g.(?_1592306)_(12387899_?)dup
Links:
dbVar: nssv579128; dbVar: nsv529255
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000077942ISCA site 4

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 4, SCV000077942.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Sep 1, 2024