U.S. flag

An official website of the United States government

GRCh38/hg38 4q35.1-35.2(chr4:185698962-189975613)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 21, 2012
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:
RCV000139618.5

Allele description [Variation Report for GRCh38/hg38 4q35.1-35.2(chr4:185698962-189975613)x1]

GRCh38/hg38 4q35.1-35.2(chr4:185698962-189975613)x1

Genes:
  • LOC129993525:ATAC-STARR-seq lymphoblastoid active region 22266 [Gene]
  • LOC129993527:ATAC-STARR-seq lymphoblastoid active region 22267 [Gene]
  • LOC129993524:ATAC-STARR-seq lymphoblastoid silent region 15857 [Gene]
  • LOC129993526:ATAC-STARR-seq lymphoblastoid silent region 15858 [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]
  • 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]
  • 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]
  • LOC123493252:Sharpr-MPRA regulatory region 123 [Gene]
  • LOC123493253:Sharpr-MPRA regulatory region 13116 [Gene]
  • LOC121725196:Sharpr-MPRA regulatory region 4557 [Gene]
  • LOC123493254:Sharpr-MPRA regulatory region 651 [Gene]
  • LOC121056755:Sharpr-MPRA regulatory region 7889 [Gene]
  • ZFP42:ZFP42 zinc finger protein [Gene - OMIM - HGNC]
  • F11:coagulation factor XI [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]
  • LINC01596:long intergenic non-protein coding RNA 1596 [Gene - HGNC]
  • LINC02374:long intergenic non-protein coding RNA 2374 [Gene - HGNC]
  • LINC02434:long intergenic non-protein coding RNA 2434 [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]
  • SORBS2:sorbin and SH3 domain containing 2 [Gene - OMIM - 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]
  • 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(chr4:185698962-189975613)x1
HGVS:
  • NC_000004.12:g.(?_185698962)_(189975613_?)del
  • NC_000004.10:g.(?_186857110)_(191133762_?)del
  • NC_000004.11:g.(?_186620116)_(190828225_?)del
Links:
dbVar: nssv1604403; dbVar: nsv917107
Observations:
1

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000180198ISCA site 4

See additional submitters

no assertion criteria provided
Uncertain significance
(Sep 21, 2012) 		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

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 4, SCV000180198.3

#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