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GRCh38/hg38 4q35.1(chr4:182990639-186013514)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:
RCV000051806.5

Allele description [Variation Report for GRCh38/hg38 4q35.1(chr4:182990639-186013514)x3]

GRCh38/hg38 4q35.1(chr4:182990639-186013514)x3

Genes:
  • LOC129993432:ATAC-STARR-seq lymphoblastoid active region 22183 [Gene]
  • LOC129993434:ATAC-STARR-seq lymphoblastoid active region 22184 [Gene]
  • LOC129993438:ATAC-STARR-seq lymphoblastoid active region 22185 [Gene]
  • LOC129993440:ATAC-STARR-seq lymphoblastoid active region 22188 [Gene]
  • LOC129993441:ATAC-STARR-seq lymphoblastoid active region 22189 [Gene]
  • LOC129993442:ATAC-STARR-seq lymphoblastoid active region 22190 [Gene]
  • LOC129993443:ATAC-STARR-seq lymphoblastoid active region 22191 [Gene]
  • LOC129993444:ATAC-STARR-seq lymphoblastoid active region 22193 [Gene]
  • LOC129993445:ATAC-STARR-seq lymphoblastoid active region 22194 [Gene]
  • LOC129993446:ATAC-STARR-seq lymphoblastoid active region 22195 [Gene]
  • LOC129993447:ATAC-STARR-seq lymphoblastoid active region 22196 [Gene]
  • LOC129993448:ATAC-STARR-seq lymphoblastoid active region 22197 [Gene]
  • LOC129993449:ATAC-STARR-seq lymphoblastoid active region 22198 [Gene]
  • LOC129993450:ATAC-STARR-seq lymphoblastoid active region 22199 [Gene]
  • LOC129993451:ATAC-STARR-seq lymphoblastoid active region 22200 [Gene]
  • LOC129993452:ATAC-STARR-seq lymphoblastoid active region 22201 [Gene]
  • LOC129993453:ATAC-STARR-seq lymphoblastoid active region 22202 [Gene]
  • LOC129993454:ATAC-STARR-seq lymphoblastoid active region 22203 [Gene]
  • LOC129993455:ATAC-STARR-seq lymphoblastoid active region 22204 [Gene]
  • LOC129993457:ATAC-STARR-seq lymphoblastoid active region 22205 [Gene]
  • LOC129993458:ATAC-STARR-seq lymphoblastoid active region 22206 [Gene]
  • LOC129993459:ATAC-STARR-seq lymphoblastoid active region 22208 [Gene]
  • LOC129993460:ATAC-STARR-seq lymphoblastoid active region 22209 [Gene]
  • LOC129993461:ATAC-STARR-seq lymphoblastoid active region 22210 [Gene]
  • LOC129993463:ATAC-STARR-seq lymphoblastoid active region 22213 [Gene]
  • LOC129993464:ATAC-STARR-seq lymphoblastoid active region 22214 [Gene]
  • LOC129993465:ATAC-STARR-seq lymphoblastoid active region 22215 [Gene]
  • LOC129993466:ATAC-STARR-seq lymphoblastoid active region 22216 [Gene]
  • LOC129993467:ATAC-STARR-seq lymphoblastoid active region 22218 [Gene]
  • LOC129993468:ATAC-STARR-seq lymphoblastoid active region 22219 [Gene]
  • LOC129993469:ATAC-STARR-seq lymphoblastoid active region 22220 [Gene]
  • LOC129993474:ATAC-STARR-seq lymphoblastoid active region 22221 [Gene]
  • LOC129993475:ATAC-STARR-seq lymphoblastoid active region 22222 [Gene]
  • LOC129993476:ATAC-STARR-seq lymphoblastoid active region 22225 [Gene]
  • LOC129993477:ATAC-STARR-seq lymphoblastoid active region 22226 [Gene]
  • LOC129993478:ATAC-STARR-seq lymphoblastoid active region 22227 [Gene]
  • LOC129993479:ATAC-STARR-seq lymphoblastoid active region 22228 [Gene]
  • LOC129993480:ATAC-STARR-seq lymphoblastoid active region 22229 [Gene]
  • LOC129993481:ATAC-STARR-seq lymphoblastoid active region 22230 [Gene]
  • LOC129993482:ATAC-STARR-seq lymphoblastoid active region 22231 [Gene]
  • LOC129993486:ATAC-STARR-seq lymphoblastoid active region 22233 [Gene]
  • LOC129993487:ATAC-STARR-seq lymphoblastoid active region 22234 [Gene]
  • LOC129993488:ATAC-STARR-seq lymphoblastoid active region 22235 [Gene]
  • LOC129993489:ATAC-STARR-seq lymphoblastoid active region 22236 [Gene]
  • LOC129993490:ATAC-STARR-seq lymphoblastoid active region 22237 [Gene]
  • LOC129993491:ATAC-STARR-seq lymphoblastoid active region 22238 [Gene]
  • LOC129993492:ATAC-STARR-seq lymphoblastoid active region 22239 [Gene]
  • LOC129993493:ATAC-STARR-seq lymphoblastoid active region 22240 [Gene]
  • LOC129993496:ATAC-STARR-seq lymphoblastoid active region 22243 [Gene]
  • LOC129993497:ATAC-STARR-seq lymphoblastoid active region 22244 [Gene]
  • LOC129993498:ATAC-STARR-seq lymphoblastoid active region 22245 [Gene]
  • LOC129993499:ATAC-STARR-seq lymphoblastoid active region 22246 [Gene]
  • LOC129993500:ATAC-STARR-seq lymphoblastoid active region 22247 [Gene]
  • LOC129993502:ATAC-STARR-seq lymphoblastoid active region 22248 [Gene]
  • LOC129993503:ATAC-STARR-seq lymphoblastoid active region 22249 [Gene]
  • LOC129993507:ATAC-STARR-seq lymphoblastoid active region 22250 [Gene]
  • LOC129993508:ATAC-STARR-seq lymphoblastoid active region 22251 [Gene]
  • LOC129993509:ATAC-STARR-seq lymphoblastoid active region 22252 [Gene]
  • LOC129993510:ATAC-STARR-seq lymphoblastoid active region 22253 [Gene]
  • LOC129993511:ATAC-STARR-seq lymphoblastoid active region 22254 [Gene]
  • LOC129993512:ATAC-STARR-seq lymphoblastoid active region 22255 [Gene]
  • LOC129993513:ATAC-STARR-seq lymphoblastoid active region 22256 [Gene]
  • LOC129993516:ATAC-STARR-seq lymphoblastoid active region 22257 [Gene]
  • LOC129993517:ATAC-STARR-seq lymphoblastoid active region 22258 [Gene]
  • LOC129993519:ATAC-STARR-seq lymphoblastoid active region 22259 [Gene]
  • LOC129993521:ATAC-STARR-seq lymphoblastoid active region 22260 [Gene]
  • LOC129993522:ATAC-STARR-seq lymphoblastoid active region 22261 [Gene]
  • LOC129993431:ATAC-STARR-seq lymphoblastoid silent region 15826 [Gene]
  • LOC129993433:ATAC-STARR-seq lymphoblastoid silent region 15827 [Gene]
  • LOC129993435:ATAC-STARR-seq lymphoblastoid silent region 15828 [Gene]
  • LOC129993436:ATAC-STARR-seq lymphoblastoid silent region 15829 [Gene]
  • LOC129993437:ATAC-STARR-seq lymphoblastoid silent region 15830 [Gene]
  • LOC129993439:ATAC-STARR-seq lymphoblastoid silent region 15833 [Gene]
  • LOC129993456:ATAC-STARR-seq lymphoblastoid silent region 15834 [Gene]
  • LOC129993462:ATAC-STARR-seq lymphoblastoid silent region 15835 [Gene]
  • LOC129993470:ATAC-STARR-seq lymphoblastoid silent region 15836 [Gene]
  • LOC129993471:ATAC-STARR-seq lymphoblastoid silent region 15837 [Gene]
  • LOC129993472:ATAC-STARR-seq lymphoblastoid silent region 15838 [Gene]
  • LOC129993473:ATAC-STARR-seq lymphoblastoid silent region 15839 [Gene]
  • LOC129993483:ATAC-STARR-seq lymphoblastoid silent region 15840 [Gene]
  • LOC129993484:ATAC-STARR-seq lymphoblastoid silent region 15841 [Gene]
  • LOC129993485:ATAC-STARR-seq lymphoblastoid silent region 15842 [Gene]
  • LOC129993494:ATAC-STARR-seq lymphoblastoid silent region 15844 [Gene]
  • LOC129993495:ATAC-STARR-seq lymphoblastoid silent region 15845 [Gene]
  • LOC129993501:ATAC-STARR-seq lymphoblastoid silent region 15847 [Gene]
  • LOC129993504:ATAC-STARR-seq lymphoblastoid silent region 15849 [Gene]
  • LOC129993505:ATAC-STARR-seq lymphoblastoid silent region 15850 [Gene]
  • LOC129993506:ATAC-STARR-seq lymphoblastoid silent region 15851 [Gene]
  • LOC129993514:ATAC-STARR-seq lymphoblastoid silent region 15852 [Gene]
  • LOC129993515:ATAC-STARR-seq lymphoblastoid silent region 15853 [Gene]
  • LOC129993518:ATAC-STARR-seq lymphoblastoid silent region 15854 [Gene]
  • LOC129993520:ATAC-STARR-seq lymphoblastoid silent region 15855 [Gene]
  • LOC129993523:ATAC-STARR-seq lymphoblastoid silent region 15856 [Gene]
  • LOC126807236:BRD4-independent group 4 enhancer GRCh37_chr4:184269461-184270660 [Gene]
  • LOC126807238:BRD4-independent group 4 enhancer GRCh37_chr4:184614366-184615565 [Gene]
  • LOC126807246:BRD4-independent group 4 enhancer GRCh37_chr4:186434842-186436041 [Gene]
  • LOC126807247:BRD4-independent group 4 enhancer GRCh37_chr4:186508176-186509375 [Gene]
  • LOC126807239:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:185189051-185190250 [Gene]
  • LOC126807241:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:185304232-185305431 [Gene]
  • LOC126807243:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:185424979-185426178 [Gene]
  • LOC126807245:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:185814744-185815943 [Gene]
  • LOC126807248:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:186760070-186761269 [Gene]
  • CDKN2AIP:CDKN2A interacting protein [Gene - OMIM - HGNC]
  • ING2-DT:ING2 divergent transcript [Gene - HGNC]
  • IRF2-DT:IRF2 divergent transcript [Gene - HGNC]
  • LRP2BP:LRP2 binding protein [Gene - OMIM - HGNC]
  • LOC126807242:MED14-independent group 3 enhancer GRCh37_chr4:185339175-185340374 [Gene]
  • MIR3945HG:MIR3945 host gene [Gene - HGNC]
  • LOC132089104:Neanderthal introgressed variant-containing enhancer experimental_76759 [Gene]
  • LOC126807235:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:184216060-184217259 [Gene]
  • LOC126807237:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:184359150-184360349 [Gene]
  • LOC126807240:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:185196353-185197552 [Gene]
  • LOC126807244:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:185609328-185610527 [Gene]
  • LOC108281192:PATRR4 recombination region [Gene]
  • PDLIM3:PDZ and LIM domain 3 [Gene - OMIM - HGNC]
  • RWDD4:RWD domain containing 4 [Gene - HGNC]
  • SORBS2-AS1:SORBS2 antisense RNA 1 [Gene - HGNC]
  • LOC123493243:Sharpr-MPRA regulatory region 10146 [Gene]
  • LOC121056752:Sharpr-MPRA regulatory region 11336 [Gene]
  • LOC123493245:Sharpr-MPRA regulatory region 12125 [Gene]
  • LOC121056754:Sharpr-MPRA regulatory region 12245 [Gene]
  • LOC123493252:Sharpr-MPRA regulatory region 123 [Gene]
  • LOC121725195:Sharpr-MPRA regulatory region 13144 [Gene]
  • LOC123493246:Sharpr-MPRA regulatory region 13226 [Gene]
  • LOC123493244:Sharpr-MPRA regulatory region 1728 [Gene]
  • LOC123493251:Sharpr-MPRA regulatory region 2405 [Gene]
  • LOC112939927:Sharpr-MPRA regulatory region 3150 [Gene]
  • LOC121056753:Sharpr-MPRA regulatory region 4736 [Gene]
  • LOC123493247:Sharpr-MPRA regulatory region 4878 [Gene]
  • LOC123493249:Sharpr-MPRA regulatory region 683 [Gene]
  • LOC121056751:Sharpr-MPRA regulatory region 724 [Gene]
  • LOC121056750:Sharpr-MPRA regulatory region 7903 [Gene]
  • LOC123493250:Sharpr-MPRA regulatory region 8879 [Gene]
  • LOC123493248:Sharpr-MPRA regulatory region 940 [Gene]
  • UFSP2:UFM1 specific peptidase 2 [Gene - OMIM - HGNC]
  • LOC114827834:VISTA enhancer hs2502 [Gene]
  • WWC2:WW and C2 domain containing 2 [Gene - OMIM - HGNC]
  • WWC2-AS1:WWC2 antisense RNA 1 [Gene - OMIM - HGNC]
  • WWC2-AS2:WWC2 antisense RNA 2 [Gene - HGNC]
  • ACSL1:acyl-CoA synthetase long chain family member 1 [Gene - OMIM - HGNC]
  • ANKRD37:ankyrin repeat domain 37 [Gene - OMIM - HGNC]
  • CASP3:caspase 3 [Gene - OMIM - HGNC]
  • CENPU:centromere protein U [Gene - OMIM - HGNC]
  • CFAP96:cilia and flagella associated protein 96 [Gene - HGNC]
  • CFAP97:cilia and flagella associated protein 97 [Gene - OMIM - HGNC]
  • CLDN22:claudin 22 [Gene - HGNC]
  • CLDN24:claudin 24 [Gene - HGNC]
  • CCDC110:coiled-coil domain containing 110 [Gene - OMIM - HGNC]
  • ENPP6:ectonucleotide pyrophosphatase/phosphodiesterase 6 [Gene - OMIM - HGNC]
  • HELT:helt bHLH transcription factor [Gene - OMIM - HGNC]
  • ING2:inhibitor of growth family member 2 [Gene - OMIM - HGNC]
  • IRF2:interferon regulatory factor 2 [Gene - OMIM - HGNC]
  • LINC01093:long intergenic non-protein coding RNA 1093 [Gene - HGNC]
  • LINC02362:long intergenic non-protein coding RNA 2362 [Gene - HGNC]
  • LINC02363:long intergenic non-protein coding RNA 2363 [Gene - HGNC]
  • LINC02365:long intergenic non-protein coding RNA 2365 [Gene - HGNC]
  • LINC02427:long intergenic non-protein coding RNA 2427 [Gene - HGNC]
  • LINC02436:long intergenic non-protein coding RNA 2436 [Gene - HGNC]
  • MIR3945:microRNA 3945 [Gene - HGNC]
  • MIR4455:microRNA 4455 [Gene - HGNC]
  • PRIMPOL:primase and DNA directed polymerase [Gene - OMIM - HGNC]
  • SLC25A4:solute carrier family 25 member 4 [Gene - OMIM - HGNC]
  • SORBS2:sorbin and SH3 domain containing 2 [Gene - OMIM - HGNC]
  • SNX25:sorting nexin 25 [Gene - HGNC]
  • STOX2:storkhead box 2 [Gene - OMIM - HGNC]
  • TRAPPC11:trafficking protein particle complex subunit 11 [Gene - OMIM - HGNC]
  • LOC105377590:uncharacterized LOC105377590 [Gene]
Variant type:
copy number gain
Cytogenetic location:
4q35.1
Genomic location:
Preferred name:
GRCh38/hg38 4q35.1(chr4:182990639-186013514)x3
HGVS:
  • NC_000004.12:g.(?_182990639)_(186013514_?)dup
  • NC_000004.10:g.(?_184148786)_(187171662_?)dup
  • NC_000004.11:g.(?_183911792)_(186934668_?)dup
Links:
dbVar: nssv578996; dbVar: nsv530327
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
SCV000079154GeneDx
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, SCV000079154.5

#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