U.S. flag

An official website of the United States government

GRCh38/hg38 4q25-26(chr4:111069785-116691879)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:
RCV000134955.6

Allele description [Variation Report for GRCh38/hg38 4q25-26(chr4:111069785-116691879)x1]

GRCh38/hg38 4q25-26(chr4:111069785-116691879)x1

Genes:
  • AP1AR-DT:AP1AR divergent transcript [Gene - HGNC]
  • LOC129992970:ATAC-STARR-seq lymphoblastoid active region 21819 [Gene]
  • LOC129992972:ATAC-STARR-seq lymphoblastoid active region 21820 [Gene]
  • LOC129992973:ATAC-STARR-seq lymphoblastoid active region 21821 [Gene]
  • LOC129992975:ATAC-STARR-seq lymphoblastoid active region 21822 [Gene]
  • LOC129992976:ATAC-STARR-seq lymphoblastoid active region 21823 [Gene]
  • LOC129992977:ATAC-STARR-seq lymphoblastoid active region 21824 [Gene]
  • LOC129992978:ATAC-STARR-seq lymphoblastoid active region 21825 [Gene]
  • LOC129992980:ATAC-STARR-seq lymphoblastoid active region 21826 [Gene]
  • LOC129992981:ATAC-STARR-seq lymphoblastoid active region 21827 [Gene]
  • LOC129992982:ATAC-STARR-seq lymphoblastoid active region 21828 [Gene]
  • LOC129992988:ATAC-STARR-seq lymphoblastoid active region 21831 [Gene]
  • LOC129992989:ATAC-STARR-seq lymphoblastoid active region 21832 [Gene]
  • LOC129992990:ATAC-STARR-seq lymphoblastoid active region 21833 [Gene]
  • LOC129992992:ATAC-STARR-seq lymphoblastoid active region 21836 [Gene]
  • LOC129992996:ATAC-STARR-seq lymphoblastoid active region 21838 [Gene]
  • LOC129992999:ATAC-STARR-seq lymphoblastoid active region 21839 [Gene]
  • LOC129993000:ATAC-STARR-seq lymphoblastoid active region 21840 [Gene]
  • LOC129993001:ATAC-STARR-seq lymphoblastoid active region 21841 [Gene]
  • LOC129993002:ATAC-STARR-seq lymphoblastoid active region 21842 [Gene]
  • LOC129993003:ATAC-STARR-seq lymphoblastoid active region 21843 [Gene]
  • LOC129993004:ATAC-STARR-seq lymphoblastoid active region 21844 [Gene]
  • LOC129992968:ATAC-STARR-seq lymphoblastoid silent region 15631 [Gene]
  • LOC129992969:ATAC-STARR-seq lymphoblastoid silent region 15632 [Gene]
  • LOC129992971:ATAC-STARR-seq lymphoblastoid silent region 15633 [Gene]
  • LOC129992974:ATAC-STARR-seq lymphoblastoid silent region 15636 [Gene]
  • LOC129992979:ATAC-STARR-seq lymphoblastoid silent region 15637 [Gene]
  • LOC129992983:ATAC-STARR-seq lymphoblastoid silent region 15638 [Gene]
  • LOC129992984:ATAC-STARR-seq lymphoblastoid silent region 15639 [Gene]
  • LOC129992985:ATAC-STARR-seq lymphoblastoid silent region 15640 [Gene]
  • LOC129992986:ATAC-STARR-seq lymphoblastoid silent region 15641 [Gene]
  • LOC129992987:ATAC-STARR-seq lymphoblastoid silent region 15642 [Gene]
  • LOC129992991:ATAC-STARR-seq lymphoblastoid silent region 15643 [Gene]
  • LOC129992993:ATAC-STARR-seq lymphoblastoid silent region 15644 [Gene]
  • LOC129992994:ATAC-STARR-seq lymphoblastoid silent region 15645 [Gene]
  • LOC129992995:ATAC-STARR-seq lymphoblastoid silent region 15646 [Gene]
  • LOC129992997:ATAC-STARR-seq lymphoblastoid silent region 15647 [Gene]
  • LOC129992998:ATAC-STARR-seq lymphoblastoid silent region 15648 [Gene]
  • LOC126807139:BRD4-independent group 4 enhancer GRCh37_chr4:114839688-114840887 [Gene]
  • LOC126807137:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:114276560-114277759 [Gene]
  • LOC111591508:FOXA motif-containing MPRA enhancer 297 [Gene]
  • LARP7:La ribonucleoprotein 7, transcriptional regulator [Gene - OMIM - HGNC]
  • LOC126807136:MED14-independent group 3 enhancer GRCh37_chr4:114274931-114276130 [Gene]
  • LOC126807138:MED14-independent group 3 enhancer GRCh37_chr4:114481688-114482887 [Gene]
  • LOC126807140:MED14-independent group 3 enhancer GRCh37_chr4:117524371-117525570 [Gene]
  • NDST4:N-deacetylase and N-sulfotransferase 4 [Gene - OMIM - HGNC]
  • NEUROG2-AS1:NEUROG2 and ZGRF1 antisense RNA 1 [Gene - HGNC]
  • LOC132089001:Neanderthal introgressed variant-containing enhancer experimental_72110 [Gene]
  • LOC132089002:Neanderthal introgressed variant-containing enhancer experimental_72140 [Gene]
  • LOC132089003:Neanderthal introgressed variant-containing enhancer experimental_72235 [Gene]
  • LOC132089004:Neanderthal introgressed variant-containing enhancer experimental_72247 [Gene]
  • LOC112935973:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:113003830-113005029 [Gene]
  • LOC123480920:Sharpr-MPRA regulatory region 13729 [Gene]
  • LOC123480921:Sharpr-MPRA regulatory region 15168 [Gene]
  • LOC112935976:Sharpr-MPRA regulatory region 2369 [Gene]
  • LOC123477806:Sharpr-MPRA regulatory region 3285 [Gene]
  • LOC123477807:Sharpr-MPRA regulatory region 420 [Gene]
  • LOC123477810:Sharpr-MPRA regulatory region 8287 [Gene]
  • LOC123477809:Sharpr-MPRA regulatory region 8329 [Gene]
  • LOC112935975:Sharpr-MPRA regulatory region 864 [Gene]
  • LOC123477808:Sharpr-MPRA regulatory region 87 [Gene]
  • LOC112935974:Sharpr-MPRA regulatory region 9995 [Gene]
  • TIFA:TRAF interacting protein with forkhead associated domain [Gene - OMIM - HGNC]
  • UGT8:UDP glycosyltransferase 8 [Gene - OMIM - HGNC]
  • LOC110120703:VISTA enhancer hs559 [Gene]
  • LOC110120805:VISTA enhancer hs926 [Gene]
  • LOC110120819:VISTA enhancer hs981 [Gene]
  • AP1AR:adaptor related protein complex 1 associated regulatory protein [Gene - OMIM - HGNC]
  • ALPK1:alpha kinase 1 [Gene - OMIM - HGNC]
  • ANK2:ankyrin 2 [Gene - OMIM - HGNC]
  • ARSJ:arylsulfatase family member J [Gene - OMIM - HGNC]
  • CAMK2D:calcium/calmodulin dependent protein kinase II delta [Gene - OMIM - HGNC]
  • FAM241A:family with sequence similarity 241 member A [Gene - HGNC]
  • LINC02945:long intergenic non-protein coding RNA 2945 [Gene - HGNC]
  • MIR302CHG:miR-302/367 cluster host gene [Gene - HGNC]
  • MIR1243:microRNA 1243 [Gene - HGNC]
  • MIR1973:microRNA 1973 [Gene - HGNC]
  • MIR302A:microRNA 302a [Gene - OMIM - HGNC]
  • MIR302B:microRNA 302b [Gene - OMIM - HGNC]
  • MIR302C:microRNA 302c [Gene - OMIM - HGNC]
  • MIR302D:microRNA 302d [Gene - OMIM - HGNC]
  • MIR367:microRNA 367 [Gene - OMIM - HGNC]
  • MIR577:microRNA 577 [Gene - HGNC]
  • MIR8082:microRNA 8082 [Gene - HGNC]
  • NEUROG2:neurogenin 2 [Gene - OMIM - HGNC]
  • LOC105377366:uncharacterized LOC105377366 [Gene]
  • ZGRF1:zinc finger GRF-type containing 1 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
4q25-26
Genomic location:
Preferred name:
GRCh38/hg38 4q25-26(chr4:111069785-116691879)x1
HGVS:
  • NC_000004.12:g.(?_111069785)_(116691879_?)del
  • NC_000004.10:g.(?_112210390)_(117832483_?)del
  • NC_000004.11:g.(?_111990941)_(117613035_?)del
Links:
dbVar: nssv584492; dbVar: nsv498104
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
SCV000174612ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Jan 5, 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

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, SCV000174612.4

#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