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GRCh38/hg38 5p15.33(chr5:22149-946680)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 1, 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:
RCV000138166.5

Allele description [Variation Report for GRCh38/hg38 5p15.33(chr5:22149-946680)x1]

GRCh38/hg38 5p15.33(chr5:22149-946680)x1

Genes:
  • LOC108251796:AHRR intron CAGE-defined high expression enhancer [Gene]
  • LOC129993528:ATAC-STARR-seq lymphoblastoid active region 22268 [Gene]
  • LOC129993529:ATAC-STARR-seq lymphoblastoid active region 22269 [Gene]
  • LOC129993530:ATAC-STARR-seq lymphoblastoid active region 22270 [Gene]
  • LOC129993531:ATAC-STARR-seq lymphoblastoid active region 22271 [Gene]
  • LOC129993533:ATAC-STARR-seq lymphoblastoid active region 22272 [Gene]
  • LOC129993536:ATAC-STARR-seq lymphoblastoid active region 22273 [Gene]
  • LOC129993539:ATAC-STARR-seq lymphoblastoid active region 22274 [Gene]
  • LOC129993540:ATAC-STARR-seq lymphoblastoid active region 22275 [Gene]
  • LOC129993541:ATAC-STARR-seq lymphoblastoid active region 22276 [Gene]
  • LOC129993542:ATAC-STARR-seq lymphoblastoid active region 22277 [Gene]
  • LOC129993543:ATAC-STARR-seq lymphoblastoid active region 22278 [Gene]
  • LOC129993544:ATAC-STARR-seq lymphoblastoid active region 22279 [Gene]
  • LOC129993545:ATAC-STARR-seq lymphoblastoid active region 22280 [Gene]
  • LOC129993549:ATAC-STARR-seq lymphoblastoid active region 22281 [Gene]
  • LOC129993550:ATAC-STARR-seq lymphoblastoid active region 22283 [Gene]
  • LOC129993552:ATAC-STARR-seq lymphoblastoid active region 22284 [Gene]
  • LOC129993553:ATAC-STARR-seq lymphoblastoid active region 22285 [Gene]
  • LOC129993554:ATAC-STARR-seq lymphoblastoid active region 22286 [Gene]
  • LOC129993555:ATAC-STARR-seq lymphoblastoid active region 22287 [Gene]
  • LOC129993556:ATAC-STARR-seq lymphoblastoid active region 22288 [Gene]
  • LOC129993557:ATAC-STARR-seq lymphoblastoid active region 22289 [Gene]
  • LOC129993558:ATAC-STARR-seq lymphoblastoid active region 22290 [Gene]
  • LOC129993559:ATAC-STARR-seq lymphoblastoid active region 22291 [Gene]
  • LOC129993561:ATAC-STARR-seq lymphoblastoid active region 22292 [Gene]
  • LOC129993562:ATAC-STARR-seq lymphoblastoid active region 22293 [Gene]
  • LOC129993563:ATAC-STARR-seq lymphoblastoid active region 22294 [Gene]
  • LOC129993565:ATAC-STARR-seq lymphoblastoid active region 22299 [Gene]
  • LOC129993566:ATAC-STARR-seq lymphoblastoid active region 22300 [Gene]
  • LOC129993567:ATAC-STARR-seq lymphoblastoid active region 22301 [Gene]
  • LOC129993568:ATAC-STARR-seq lymphoblastoid active region 22302 [Gene]
  • LOC129993532:ATAC-STARR-seq lymphoblastoid silent region 15861 [Gene]
  • LOC129993534:ATAC-STARR-seq lymphoblastoid silent region 15862 [Gene]
  • LOC129993535:ATAC-STARR-seq lymphoblastoid silent region 15863 [Gene]
  • LOC129993537:ATAC-STARR-seq lymphoblastoid silent region 15866 [Gene]
  • LOC129993538:ATAC-STARR-seq lymphoblastoid silent region 15867 [Gene]
  • LOC129993546:ATAC-STARR-seq lymphoblastoid silent region 15868 [Gene]
  • LOC129993547:ATAC-STARR-seq lymphoblastoid silent region 15869 [Gene]
  • LOC129993548:ATAC-STARR-seq lymphoblastoid silent region 15870 [Gene]
  • LOC129993551:ATAC-STARR-seq lymphoblastoid silent region 15871 [Gene]
  • LOC129993560:ATAC-STARR-seq lymphoblastoid silent region 15872 [Gene]
  • LOC129993564:ATAC-STARR-seq lymphoblastoid silent region 15876 [Gene]
  • LOC129993569:ATAC-STARR-seq lymphoblastoid silent region 15879 [Gene]
  • LOC126807281:BRD4-independent group 4 enhancer GRCh37_chr5:399561-400760 [Gene]
  • LOC126807282:BRD4-independent group 4 enhancer GRCh37_chr5:458642-459841 [Gene]
  • LOC126807283:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:618691-619890 [Gene]
  • CEP72-DT:CEP72 divergent transcript [Gene - HGNC]
  • EXOC3-AS1:EXOC3 antisense RNA 1 [Gene - HGNC]
  • LOC126807280:MED14-independent group 3 enhancer GRCh37_chr5:169157-170356 [Gene]
  • LOC132089249:Neanderthal introgressed variant-containing enhancer experimental_85003 [Gene]
  • LOC132090719:Neanderthal introgressed variant-containing enhancer experimental_85008 [Gene]
  • LOC132089250:Neanderthal introgressed variant-containing enhancer experimental_85009 [Gene]
  • LOC132089251:Neanderthal introgressed variant-containing enhancer experimental_85011 [Gene]
  • LOC132089252:Neanderthal introgressed variant-containing enhancer experimental_85012 [Gene]
  • LOC132090720:Neanderthal introgressed variant-containing enhancer experimental_85017 [Gene]
  • LOC132089253:Neanderthal introgressed variant-containing enhancer experimental_85030 [Gene]
  • LOC132089272:Neanderthal introgressed variant-containing enhancer experimental_85954 [Gene]
  • LOC132089273:Neanderthal introgressed variant-containing enhancer experimental_85959 [Gene]
  • LOC132089275:Neanderthal introgressed variant-containing enhancer experimental_86175 [Gene]
  • LOC132089289:Neanderthal introgressed variant-containing enhancer experimental_86692/86693 [Gene]
  • LOC132090721:Neanderthal introgressed variant-containing enhancer experimental_86701 [Gene]
  • LOC132089290:Neanderthal introgressed variant-containing enhancer experimental_86736 [Gene]
  • LOC132089291:Neanderthal introgressed variant-containing enhancer experimental_86741 [Gene]
  • LOC132089292:Neanderthal introgressed variant-containing enhancer experimental_86745 [Gene]
  • LOC132090722:Neanderthal introgressed variant-containing enhancer experimental_86749/86750 [Gene]
  • LOC132089293:Neanderthal introgressed variant-containing enhancer experimental_86753 [Gene]
  • LOC132089294:Neanderthal introgressed variant-containing enhancer experimental_86779 [Gene]
  • LOC132089295:Neanderthal introgressed variant-containing enhancer experimental_86783 [Gene]
  • LOC132089296:Neanderthal introgressed variant-containing enhancer experimental_86799 [Gene]
  • LOC132089297:Neanderthal introgressed variant-containing enhancer experimental_86803 [Gene]
  • LOC132089298:Neanderthal introgressed variant-containing enhancer experimental_86807 [Gene]
  • LOC132089299:Neanderthal introgressed variant-containing enhancer experimental_86811 [Gene]
  • LOC132089300:Neanderthal introgressed variant-containing enhancer experimental_86819 [Gene]
  • LOC132089301:Neanderthal introgressed variant-containing enhancer experimental_86831 [Gene]
  • LOC132089302:Neanderthal introgressed variant-containing enhancer experimental_86835 [Gene]
  • LOC132090723:Neanderthal introgressed variant-containing enhancer experimental_86841/86842 [Gene]
  • LOC132089303:Neanderthal introgressed variant-containing enhancer experimental_86882 [Gene]
  • LOC132205959:Neanderthal introgressed variant-containing enhancers experimental_86823 and experimental_86827 [Gene]
  • PDCD6-DT:PDCD6 divergent transcript [Gene - HGNC]
  • PDCD6-AHRR:PDCD6-AHRR readthrough (NMD candidate) [Gene - HGNC]
  • SLC9A3-OT1:SLC9A3 3' UTR overlapping transcript 1 [Gene - HGNC]
  • SLC9A3-AS1:SLC9A3 antisense RNA 1 [Gene - HGNC]
  • LOC121725197:Sharpr-MPRA regulatory region 11960 [Gene]
  • LOC123493257:Sharpr-MPRA regulatory region 15179 [Gene]
  • LOC123493258:Sharpr-MPRA regulatory region 1606 [Gene]
  • LOC123493256:Sharpr-MPRA regulatory region 259 [Gene]
  • AHRR:aryl hydrocarbon receptor repressor [Gene - OMIM - HGNC]
  • BRD9:bromodomain containing 9 [Gene - OMIM - HGNC]
  • CEP72:centrosomal protein 72 [Gene - OMIM - HGNC]
  • CCDC127:coiled-coil domain containing 127 [Gene - HGNC]
  • EXOC3:exocyst complex component 3 [Gene - OMIM - HGNC]
  • LRRC14B:leucine rich repeat containing 14B [Gene - HGNC]
  • MIR4456:microRNA 4456 [Gene - HGNC]
  • PLEKHG4B:pleckstrin homology and RhoGEF domain containing G4B [Gene - OMIM - HGNC]
  • PDCD6:programmed cell death 6 [Gene - OMIM - HGNC]
  • SLC9A3:solute carrier family 9 member A3 [Gene - OMIM - HGNC]
  • SDHA:succinate dehydrogenase complex flavoprotein subunit A [Gene - OMIM - HGNC]
  • TRIP13:thyroid hormone receptor interactor 13 [Gene - OMIM - HGNC]
  • TPPP:tubulin polymerization promoting protein [Gene - OMIM - HGNC]
  • ZDHHC11:zinc finger DHHC-type containing 11 [Gene - HGNC]
  • ZDHHC11B:zinc finger DHHC-type containing 11B [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
5p15.33
Genomic location:
Preferred name:
GRCh38/hg38 5p15.33(chr5:22149-946680)x1
HGVS:
  • NC_000005.10:g.(?_22149)_(946680_?)del
  • NC_000005.8:g.(?_75149)_(999795_?)del
  • NC_000005.9:g.(?_22149)_(946795_?)del
Links:
dbVar: nssv1495292; dbVar: nsv869364
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
SCV000178432ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Jun 1, 2012) 		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, SCV000178432.4

#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