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GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1 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:
RCV000053379.7

Allele description [Variation Report for GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1]

GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1

Genes:
  • 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]
  • 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]
  • 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]
  • LRP2BP:LRP2 binding protein [Gene - OMIM - HGNC]
  • 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]
  • 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]
  • 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]
  • PDLIM3:PDZ and LIM domain 3 [Gene - OMIM - HGNC]
  • SORBS2-AS1:SORBS2 antisense RNA 1 [Gene - HGNC]
  • LOC121056754:Sharpr-MPRA regulatory region 12245 [Gene]
  • LOC123493252:Sharpr-MPRA regulatory region 123 [Gene]
  • LOC123493253:Sharpr-MPRA regulatory region 13116 [Gene]
  • LOC123493251:Sharpr-MPRA regulatory region 2405 [Gene]
  • LOC121725196:Sharpr-MPRA regulatory region 4557 [Gene]
  • LOC121056753:Sharpr-MPRA regulatory region 4736 [Gene]
  • LOC123493254:Sharpr-MPRA regulatory region 651 [Gene]
  • LOC123493249:Sharpr-MPRA regulatory region 683 [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]
  • ANKRD37:ankyrin repeat domain 37 [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]
  • KLKB1:kallikrein B1 [Gene - OMIM - HGNC]
  • LINC01060:long intergenic non-protein coding RNA 1060 [Gene - HGNC]
  • LINC01262:long intergenic non-protein coding RNA 1262 [Gene - HGNC]
  • LINC02374:long intergenic non-protein coding RNA 2374 [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]
  • 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(chr4:185074103-189867552)x1
HGVS:
  • NC_000004.12:g.(?_185074103)_(189867552_?)del
  • NC_000004.10:g.(?_186232251)_(191025701_?)del
  • NC_000004.11:g.(?_185995257)_(190788707_?)del
Links:
dbVar: nssv578019; dbVar: nsv532060
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
SCV000080737ISCA Site 6

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 6, SCV000080737.5

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

Last Updated: May 7, 2024