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GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)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:
RCV000051774.5

Allele description [Variation Report for GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3]

GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3

Genes:
  • ADAMTS3:ADAM metallopeptidase with thrombospondin type 1 motif 3 [Gene - OMIM - HGNC]
  • ART3:ADP-ribosyltransferase 3 (inactive) [Gene - OMIM - HGNC]
  • ANKRD17-DT:ANKRD17 divergent transcript [Gene - HGNC]
  • LOC129992668:ATAC-STARR-seq lymphoblastoid active region 21606 [Gene]
  • LOC129992669:ATAC-STARR-seq lymphoblastoid active region 21608 [Gene]
  • LOC129992671:ATAC-STARR-seq lymphoblastoid active region 21611 [Gene]
  • LOC129992672:ATAC-STARR-seq lymphoblastoid active region 21612 [Gene]
  • LOC129992673:ATAC-STARR-seq lymphoblastoid active region 21613 [Gene]
  • LOC129992674:ATAC-STARR-seq lymphoblastoid active region 21614 [Gene]
  • LOC129992679:ATAC-STARR-seq lymphoblastoid active region 21615 [Gene]
  • LOC129992680:ATAC-STARR-seq lymphoblastoid active region 21616 [Gene]
  • LOC129992681:ATAC-STARR-seq lymphoblastoid active region 21620 [Gene]
  • LOC129992683:ATAC-STARR-seq lymphoblastoid active region 21621 [Gene]
  • LOC129992684:ATAC-STARR-seq lymphoblastoid active region 21623 [Gene]
  • LOC129992687:ATAC-STARR-seq lymphoblastoid active region 21624 [Gene]
  • LOC129992688:ATAC-STARR-seq lymphoblastoid active region 21625 [Gene]
  • LOC129992689:ATAC-STARR-seq lymphoblastoid active region 21626 [Gene]
  • LOC129992692:ATAC-STARR-seq lymphoblastoid active region 21627 [Gene]
  • LOC129992693:ATAC-STARR-seq lymphoblastoid active region 21628 [Gene]
  • LOC129992694:ATAC-STARR-seq lymphoblastoid active region 21629 [Gene]
  • LOC129992703:ATAC-STARR-seq lymphoblastoid active region 21632 [Gene]
  • LOC129992706:ATAC-STARR-seq lymphoblastoid active region 21633 [Gene]
  • LOC129992707:ATAC-STARR-seq lymphoblastoid active region 21634 [Gene]
  • LOC129992708:ATAC-STARR-seq lymphoblastoid active region 21635 [Gene]
  • LOC129992711:ATAC-STARR-seq lymphoblastoid active region 21637 [Gene]
  • LOC129992716:ATAC-STARR-seq lymphoblastoid active region 21638 [Gene]
  • LOC129992718:ATAC-STARR-seq lymphoblastoid active region 21639 [Gene]
  • LOC129992724:ATAC-STARR-seq lymphoblastoid active region 21640 [Gene]
  • LOC129992725:ATAC-STARR-seq lymphoblastoid active region 21641 [Gene]
  • LOC129992726:ATAC-STARR-seq lymphoblastoid active region 21642 [Gene]
  • LOC129992667:ATAC-STARR-seq lymphoblastoid silent region 15475 [Gene]
  • LOC129992670:ATAC-STARR-seq lymphoblastoid silent region 15476 [Gene]
  • LOC129992675:ATAC-STARR-seq lymphoblastoid silent region 15477 [Gene]
  • LOC129992676:ATAC-STARR-seq lymphoblastoid silent region 15478 [Gene]
  • LOC129992677:ATAC-STARR-seq lymphoblastoid silent region 15479 [Gene]
  • LOC129992678:ATAC-STARR-seq lymphoblastoid silent region 15480 [Gene]
  • LOC129992682:ATAC-STARR-seq lymphoblastoid silent region 15481 [Gene]
  • LOC129992685:ATAC-STARR-seq lymphoblastoid silent region 15483 [Gene]
  • LOC129992686:ATAC-STARR-seq lymphoblastoid silent region 15484 [Gene]
  • LOC129992690:ATAC-STARR-seq lymphoblastoid silent region 15485 [Gene]
  • LOC129992691:ATAC-STARR-seq lymphoblastoid silent region 15486 [Gene]
  • LOC129992695:ATAC-STARR-seq lymphoblastoid silent region 15489 [Gene]
  • LOC129992696:ATAC-STARR-seq lymphoblastoid silent region 15490 [Gene]
  • LOC129992697:ATAC-STARR-seq lymphoblastoid silent region 15491 [Gene]
  • LOC129992698:ATAC-STARR-seq lymphoblastoid silent region 15492 [Gene]
  • LOC129992699:ATAC-STARR-seq lymphoblastoid silent region 15493 [Gene]
  • LOC129992700:ATAC-STARR-seq lymphoblastoid silent region 15494 [Gene]
  • LOC129992701:ATAC-STARR-seq lymphoblastoid silent region 15495 [Gene]
  • LOC129992702:ATAC-STARR-seq lymphoblastoid silent region 15496 [Gene]
  • LOC129992704:ATAC-STARR-seq lymphoblastoid silent region 15497 [Gene]
  • LOC129992705:ATAC-STARR-seq lymphoblastoid silent region 15498 [Gene]
  • LOC129992709:ATAC-STARR-seq lymphoblastoid silent region 15499 [Gene]
  • LOC129992710:ATAC-STARR-seq lymphoblastoid silent region 15500 [Gene]
  • LOC129992712:ATAC-STARR-seq lymphoblastoid silent region 15501 [Gene]
  • LOC129992713:ATAC-STARR-seq lymphoblastoid silent region 15502 [Gene]
  • LOC129992714:ATAC-STARR-seq lymphoblastoid silent region 15503 [Gene]
  • LOC129992715:ATAC-STARR-seq lymphoblastoid silent region 15504 [Gene]
  • LOC129992717:ATAC-STARR-seq lymphoblastoid silent region 15505 [Gene]
  • LOC129992719:ATAC-STARR-seq lymphoblastoid silent region 15506 [Gene]
  • LOC129992720:ATAC-STARR-seq lymphoblastoid silent region 15507 [Gene]
  • LOC129992721:ATAC-STARR-seq lymphoblastoid silent region 15508 [Gene]
  • LOC129992722:ATAC-STARR-seq lymphoblastoid silent region 15509 [Gene]
  • LOC129992723:ATAC-STARR-seq lymphoblastoid silent region 15510 [Gene]
  • LOC126807076:BRD4-independent group 4 enhancer GRCh37_chr4:74191462-74192661 [Gene]
  • LOC126807080:BRD4-independent group 4 enhancer GRCh37_chr4:75579177-75580376 [Gene]
  • CXCL10:C-X-C motif chemokine ligand 10 [Gene - OMIM - HGNC]
  • CXCL11:C-X-C motif chemokine ligand 11 [Gene - OMIM - HGNC]
  • CXCL13:C-X-C motif chemokine ligand 13 [Gene - OMIM - HGNC]
  • CXCL1:C-X-C motif chemokine ligand 1 [Gene - OMIM - HGNC]
  • CXCL2:C-X-C motif chemokine ligand 2 [Gene - OMIM - HGNC]
  • CXCL3:C-X-C motif chemokine ligand 3 [Gene - OMIM - HGNC]
  • CXCL5:C-X-C motif chemokine ligand 5 [Gene - OMIM - HGNC]
  • CXCL6:C-X-C motif chemokine ligand 6 [Gene - OMIM - HGNC]
  • CXCL8:C-X-C motif chemokine ligand 8 [Gene - OMIM - HGNC]
  • CXCL9:C-X-C motif chemokine ligand 9 [Gene - OMIM - HGNC]
  • CNOT6L:CCR4-NOT transcription complex subunit 6 like [Gene - OMIM - HGNC]
  • LOC126807079:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:75368878-75370077 [Gene]
  • LOC126807085:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:77585909-77587108 [Gene]
  • LOC116158494:CRISPRi-validated cis-regulatory element chr4.1813 [Gene]
  • LOC116158495:CRISPRi-validated cis-regulatory element chr4.1814 [Gene]
  • LOC116158496:CRISPRi-validated cis-regulatory element chr4.1828 [Gene]
  • FAM47E-STBD1:FAM47E-STBD1 readthrough [Gene - HGNC]
  • FRAS1:Fraser extracellular matrix complex subunit 1 [Gene - OMIM - HGNC]
  • G3BP2:G3BP stress granule assembly factor 2 [Gene - OMIM - HGNC]
  • GC:GC vitamin D binding protein [Gene - OMIM - HGNC]
  • LOC126807073:MED14-independent group 3 enhancer GRCh37_chr4:72338203-72339402 [Gene]
  • LOC126807074:MED14-independent group 3 enhancer GRCh37_chr4:72479894-72481093 [Gene]
  • LOC126807075:MED14-independent group 3 enhancer GRCh37_chr4:72519382-72520581 [Gene]
  • LOC126807082:MED14-independent group 3 enhancer GRCh37_chr4:75811383-75812582 [Gene]
  • LOC126807083:MED14-independent group 3 enhancer GRCh37_chr4:76238240-76239439 [Gene]
  • LOC126807084:MED14-independent group 3 enhancer GRCh37_chr4:77379997-77381196 [Gene]
  • LOC126807086:MED14-independent group 3 enhancer GRCh37_chr4:78253952-78255151 [Gene]
  • LOC126807087:MED14-independent group 3 enhancer GRCh37_chr4:78263439-78264638 [Gene]
  • LOC129389219:MPRA-validated peak5058 silencer [Gene]
  • NAAA:N-acylethanolamine acid amidase [Gene - OMIM - HGNC]
  • LOC111591506:NFE2L2 motif-containing MPRA enhancer 290 [Gene]
  • LOC112978670:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:72977919-72979118 [Gene]
  • LOC126807077:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:74315627-74316826 [Gene]
  • LOC126807078:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:75239895-75241094 [Gene]
  • LOC126807081:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:75584575-75585774 [Gene]
  • LOC112997534:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:77702656-77703855 [Gene]
  • PARM1-AS1:PARM1 antisense RNA 1 [Gene - HGNC]
  • RASSF6:Ras association domain family member 6 [Gene - OMIM - HGNC]
  • SDAD1:SDA1 domain containing 1 [Gene - HGNC]
  • SDAD1-AS1:SDAD1 antisense RNA 1 [Gene - HGNC]
  • SHROOM3-AS1:SHROOM3 antisense RNA 1 [Gene - HGNC]
  • LOC123477763:Sharpr-MPRA regulatory region 10751 [Gene]
  • LOC112978671:Sharpr-MPRA regulatory region 11080 [Gene]
  • LOC123477766:Sharpr-MPRA regulatory region 11706 [Gene]
  • LOC121053186:Sharpr-MPRA regulatory region 1179 [Gene]
  • LOC123477758:Sharpr-MPRA regulatory region 12152 [Gene]
  • LOC123477765:Sharpr-MPRA regulatory region 12890 [Gene]
  • LOC123477756:Sharpr-MPRA regulatory region 13076 [Gene]
  • LOC123477761:Sharpr-MPRA regulatory region 14567 [Gene]
  • LOC123477762:Sharpr-MPRA regulatory region 14582 [Gene]
  • LOC123477759:Sharpr-MPRA regulatory region 152 [Gene]
  • LOC123477757:Sharpr-MPRA regulatory region 5404 [Gene]
  • LOC121725172:Sharpr-MPRA regulatory region 5509 [Gene]
  • LOC121053185:Sharpr-MPRA regulatory region 6280 [Gene]
  • LOC123477767:Sharpr-MPRA regulatory region 6551 [Gene]
  • LOC123477760:Sharpr-MPRA regulatory region 7725 [Gene]
  • LOC121053184:Sharpr-MPRA regulatory region 8651 [Gene]
  • LOC123477764:Sharpr-MPRA regulatory region 9565 [Gene]
  • LOC111828520:Sharpr-MPRA regulatory regions 3589 and 13401 [Gene]
  • THAP6:THAP domain containing 6 [Gene - OMIM - HGNC]
  • USO1:USO1 vesicle transport factor [Gene - OMIM - HGNC]
  • LOC114827842:VISTA enhancer hs2570 [Gene]
  • AFM:afamin [Gene - OMIM - HGNC]
  • LOC111832671:albumin (ALB) 5' regulatory region [Gene]
  • ALB:albumin [Gene - OMIM - HGNC]
  • LOC111832670:alpha fetoprotein (AFP) 5' regulatory region [Gene]
  • AFP:alpha fetoprotein [Gene - OMIM - HGNC]
  • AREG:amphiregulin [Gene - OMIM - HGNC]
  • ANKRD17:ankyrin repeat domain 17 [Gene - OMIM - HGNC]
  • BTC:betacellulin [Gene - OMIM - HGNC]
  • CCDC158:coiled-coil domain containing 158 [Gene - HGNC]
  • CCNG2:cyclin G2 [Gene - OMIM - HGNC]
  • CCNI:cyclin I [Gene - OMIM - HGNC]
  • CDKL2:cyclin dependent kinase like 2 [Gene - OMIM - HGNC]
  • COX18:cytochrome c oxidase assembly factor COX18 [Gene - OMIM - HGNC]
  • EREG:epiregulin [Gene - OMIM - HGNC]
  • EPGN:epithelial mitogen [Gene - OMIM - HGNC]
  • FAM47E:family with sequence similarity 47 member E [Gene - HGNC]
  • INKILN:inflammatory MKL1 (MRTFA) interacting lncRNA [Gene - HGNC]
  • LINC02483:long intergenic non-protein coding RNA 2483 [Gene - HGNC]
  • LINC02499:long intergenic non-protein coding RNA 2499 [Gene - HGNC]
  • LINC02562:long intergenic non-protein coding RNA 2562 [Gene - HGNC]
  • MTHFD2L:methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like [Gene - OMIM - HGNC]
  • MIR4450:microRNA 4450 [Gene - HGNC]
  • MIR548AH:microRNA 548ah [Gene - HGNC]
  • MRPL1:mitochondrial ribosomal protein L1 [Gene - OMIM - HGNC]
  • NPFFR2:neuropeptide FF receptor 2 [Gene - OMIM - HGNC]
  • NUP54:nucleoporin 54 [Gene - OMIM - HGNC]
  • ODAPH:odontogenesis associated phosphoprotein [Gene - OMIM - HGNC]
  • PF4V1:platelet factor 4 variant 1 [Gene - OMIM - HGNC]
  • PF4:platelet factor 4 [Gene - OMIM - HGNC]
  • PPBP:pro-platelet basic protein [Gene - OMIM - HGNC]
  • PARM1:prostate androgen-regulated mucin-like protein 1 [Gene - OMIM - HGNC]
  • PPEF2:protein phosphatase with EF-hand domain 2 [Gene - OMIM - HGNC]
  • RCHY1:ring finger and CHY zinc finger domain containing 1 [Gene - OMIM - HGNC]
  • SCARB2:scavenger receptor class B member 2 [Gene - OMIM - HGNC]
  • SEPTIN11:septin 11 [Gene - OMIM - HGNC]
  • SHROOM3:shroom family member 3 [Gene - OMIM - HGNC]
  • SLC4A4:solute carrier family 4 member 4 [Gene - OMIM - HGNC]
  • SOWAHB:sosondowah ankyrin repeat domain family member B [Gene - HGNC]
  • STBD1:starch binding domain 1 [Gene - OMIM - HGNC]
  • LOC105377276:uncharacterized LOC105377276 [Gene]
  • UMLILO:upstream master lncRNA of the inflammatory chemokine locus [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
4q13.3-21.21
Genomic location:
Preferred name:
GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3
HGVS:
  • NC_000004.12:g.(?_71128874)_(78099088_?)dup
  • NC_000004.10:g.(?_72213455)_(79239266_?)dup
  • NC_000004.11:g.(?_71994591)_(79020242_?)dup
Links:
dbVar: nssv578978; dbVar: nsv530294
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
SCV000079122GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		not providedclinical 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 GeneDx, SCV000079122.4

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

Last Updated: Oct 14, 2023