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GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 5, 2011
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:
RCV000133709.5

Allele description [Variation Report for GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1]

GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1

Genes:
  • 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]
  • LOC129993525:ATAC-STARR-seq lymphoblastoid active region 22266 [Gene]
  • LOC129993527:ATAC-STARR-seq lymphoblastoid active region 22267 [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]
  • LOC129993524:ATAC-STARR-seq lymphoblastoid silent region 15857 [Gene]
  • LOC129993526:ATAC-STARR-seq lymphoblastoid silent region 15858 [Gene]
  • LOC126807246:BRD4-independent group 4 enhancer GRCh37_chr4:186434842-186436041 [Gene]
  • LOC126807247:BRD4-independent group 4 enhancer GRCh37_chr4:186508176-186509375 [Gene]
  • LOC126807249:BRD4-independent group 4 enhancer GRCh37_chr4:186948264-186949463 [Gene]
  • LOC126807253:BRD4-independent group 4 enhancer GRCh37_chr4:187509297-187510496 [Gene]
  • LOC126807254:BRD4-independent group 4 enhancer GRCh37_chr4:187524269-187525468 [Gene]
  • LOC126807255:BRD4-independent group 4 enhancer GRCh37_chr4:187538202-187539401 [Gene]
  • LOC126807257:BRD4-independent group 4 enhancer GRCh37_chr4:187855925-187857124 [Gene]
  • LOC126807261:BRD4-independent group 4 enhancer GRCh37_chr4:188523188-188524387 [Gene]
  • LOC126807270:BRD4-independent group 4 enhancer GRCh37_chr4:189406194-189407393 [Gene]
  • LOC126807271:BRD4-independent group 4 enhancer GRCh37_chr4:189655173-189656372 [Gene]
  • LOC126807273:BRD4-independent group 4 enhancer GRCh37_chr4:189979694-189980893 [Gene]
  • LOC126807274:BRD4-independent group 4 enhancer GRCh37_chr4:190229364-190230563 [Gene]
  • LOC126807275:BRD4-independent group 4 enhancer GRCh37_chr4:190471799-190472998 [Gene]
  • LOC126807277:BRD4-independent group 4 enhancer GRCh37_chr4:190606699-190607898 [Gene]
  • LOC126807278:BRD4-independent group 4 enhancer GRCh37_chr4:190608412-190609611 [Gene]
  • LOC126088085:BRD4-independent group 4 enhancer GRCh37_chr4:190615457-190616656 [Gene]
  • LOC126807279:BRD4-independent group 4 enhancer GRCh37_chr4:190802184-190803383 [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]
  • LOC126807252:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:187292262-187293461 [Gene]
  • LOC126807258:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:187880187-187881386 [Gene]
  • LOC126807262:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:188592460-188593659 [Gene]
  • LOC126807276:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:190523074-190524273 [Gene]
  • F11-AS1:F11 antisense RNA 1 [Gene - HGNC]
  • FAT1:FAT atypical cadherin 1 [Gene - OMIM - HGNC]
  • FRG1-DT:FRG1 divergent transcript [Gene - HGNC]
  • FRG1:FSHD region gene 1 [Gene - OMIM - 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]
  • LOC126807250:MED14-independent group 3 enhancer GRCh37_chr4:187069874-187071073 [Gene]
  • LOC126807251:MED14-independent group 3 enhancer GRCh37_chr4:187091342-187092541 [Gene]
  • LOC126807256:MED14-independent group 3 enhancer GRCh37_chr4:187841344-187842543 [Gene]
  • LOC126807259:MED14-independent group 3 enhancer GRCh37_chr4:187885109-187886308 [Gene]
  • LOC126807260:MED14-independent group 3 enhancer GRCh37_chr4:188049269-188050468 [Gene]
  • LOC126807264:MED14-independent group 3 enhancer GRCh37_chr4:188784615-188785814 [Gene]
  • LOC126807265:MED14-independent group 3 enhancer GRCh37_chr4:189047967-189049166 [Gene]
  • MIR3945HG:MIR3945 host gene [Gene - HGNC]
  • LOC129389253:MPRA-validated peak5158 silencer [Gene]
  • LOC132089105:Neanderthal introgressed variant-containing enhancer experimental_76785 [Gene]
  • LOC132090718:Neanderthal introgressed variant-containing enhancer experimental_76848 [Gene]
  • LOC132089106:Neanderthal introgressed variant-containing enhancer experimental_76856 [Gene]
  • LOC132089107:Neanderthal introgressed variant-containing enhancer experimental_76895 [Gene]
  • LOC132089108:Neanderthal introgressed variant-containing enhancer experimental_76925 [Gene]
  • LOC132089109:Neanderthal introgressed variant-containing enhancer experimental_77155 [Gene]
  • LOC132089110:Neanderthal introgressed variant-containing enhancer experimental_77214 [Gene]
  • LOC126807244:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:185609328-185610527 [Gene]
  • LOC126807263:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:188665573-188666772 [Gene]
  • LOC126807266:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:189080404-189081603 [Gene]
  • LOC126807267:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:189326005-189327204 [Gene]
  • LOC126807268:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:189365717-189366916 [Gene]
  • LOC126807269:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:189369247-189370446 [Gene]
  • LOC126807272:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:189862417-189863616 [Gene]
  • LOC108281192:PATRR4 recombination region [Gene]
  • PDLIM3:PDZ and LIM domain 3 [Gene - OMIM - HGNC]
  • SORBS2-AS1:SORBS2 antisense RNA 1 [Gene - HGNC]
  • 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]
  • LOC123493253:Sharpr-MPRA regulatory region 13116 [Gene]
  • LOC123493246:Sharpr-MPRA regulatory region 13226 [Gene]
  • LOC123493251:Sharpr-MPRA regulatory region 2405 [Gene]
  • LOC121725196:Sharpr-MPRA regulatory region 4557 [Gene]
  • LOC121056753:Sharpr-MPRA regulatory region 4736 [Gene]
  • LOC123493247:Sharpr-MPRA regulatory region 4878 [Gene]
  • LOC123493254:Sharpr-MPRA regulatory region 651 [Gene]
  • LOC123493249:Sharpr-MPRA regulatory region 683 [Gene]
  • LOC121056751:Sharpr-MPRA regulatory region 724 [Gene]
  • LOC121056755:Sharpr-MPRA regulatory region 7889 [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]
  • ZFP42:ZFP42 zinc finger protein [Gene - OMIM - 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]
  • F11:coagulation factor XI [Gene - OMIM - HGNC]
  • CCDC110:coiled-coil domain containing 110 [Gene - OMIM - HGNC]
  • CYP4V2:cytochrome P450 family 4 subfamily V member 2 [Gene - OMIM - HGNC]
  • FAM149A:family with sequence similarity 149 member A [Gene - HGNC]
  • HELT:helt bHLH transcription factor [Gene - OMIM - HGNC]
  • IRF2:interferon regulatory factor 2 [Gene - OMIM - HGNC]
  • KLKB1:kallikrein B1 [Gene - OMIM - HGNC]
  • LINC01060:long intergenic non-protein coding RNA 1060 [Gene - HGNC]
  • LINC01093:long intergenic non-protein coding RNA 1093 [Gene - HGNC]
  • LINC01262:long intergenic non-protein coding RNA 1262 [Gene - HGNC]
  • LINC01596:long intergenic non-protein coding RNA 1596 [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]
  • LINC02374:long intergenic non-protein coding RNA 2374 [Gene - HGNC]
  • LINC02427:long intergenic non-protein coding RNA 2427 [Gene - HGNC]
  • LINC02434:long intergenic non-protein coding RNA 2434 [Gene - HGNC]
  • LINC02436:long intergenic non-protein coding RNA 2436 [Gene - HGNC]
  • LINC02492:long intergenic non-protein coding RNA 2492 [Gene - HGNC]
  • LINC02508:long intergenic non-protein coding RNA 2508 [Gene - HGNC]
  • LINC02514:long intergenic non-protein coding RNA 2514 [Gene - HGNC]
  • LINC02515:long intergenic non-protein coding RNA 2515 [Gene - HGNC]
  • MTNR1A:melatonin receptor 1A [Gene - OMIM - 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]
  • TLR3:toll like receptor 3 [Gene - OMIM - HGNC]
  • TRIML1:tripartite motif family like 1 [Gene - HGNC]
  • TRIML2:tripartite motif family like 2 [Gene - OMIM - HGNC]
  • LOC101930028:uncharacterized LOC101930028 [Gene]
  • LOC105377590:uncharacterized LOC105377590 [Gene]
  • LOC105377603:uncharacterized LOC105377603 [Gene]
  • LOC339975:uncharacterized LOC339975 [Gene]
  • FLJ38576:uncharacterized LOC651430 [Gene]
Variant type:
copy number loss
Cytogenetic location:
4q35.1-35.2
Genomic location:
Preferred name:
GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1
HGVS:
  • NC_000004.12:g.(?_184327081)_(189975519_?)del
  • NC_000004.10:g.(?_185485228)_(191133668_?)del
  • NC_000004.11:g.(?_185248234)_(190896674_?)del
Links:
dbVar: nssv584482; dbVar: nsv491755
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
SCV000173112ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Jan 5, 2011) 		de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humande novoyes1not 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, SCV000173112.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024