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GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3 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:
RCV000053636.4

Allele description [Variation Report for GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3]

GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3

Genes:
  • LOC129999960:ATAC-STARR-seq lymphoblastoid active region 27067 [Gene]
  • LOC129999961:ATAC-STARR-seq lymphoblastoid active region 27068 [Gene]
  • LOC129999963:ATAC-STARR-seq lymphoblastoid active region 27069 [Gene]
  • LOC129999965:ATAC-STARR-seq lymphoblastoid active region 27070 [Gene]
  • LOC129999966:ATAC-STARR-seq lymphoblastoid active region 27071 [Gene]
  • LOC129999967:ATAC-STARR-seq lymphoblastoid active region 27075 [Gene]
  • LOC129999972:ATAC-STARR-seq lymphoblastoid active region 27076 [Gene]
  • LOC129999978:ATAC-STARR-seq lymphoblastoid active region 27078 [Gene]
  • LOC129999981:ATAC-STARR-seq lymphoblastoid active region 27079 [Gene]
  • LOC129999983:ATAC-STARR-seq lymphoblastoid active region 27081 [Gene]
  • LOC129999994:ATAC-STARR-seq lymphoblastoid active region 27082 [Gene]
  • LOC129999998:ATAC-STARR-seq lymphoblastoid active region 27086 [Gene]
  • LOC130000004:ATAC-STARR-seq lymphoblastoid active region 27087 [Gene]
  • LOC130000005:ATAC-STARR-seq lymphoblastoid active region 27088 [Gene]
  • LOC130000006:ATAC-STARR-seq lymphoblastoid active region 27089 [Gene]
  • LOC130000007:ATAC-STARR-seq lymphoblastoid active region 27090 [Gene]
  • LOC130000008:ATAC-STARR-seq lymphoblastoid active region 27092 [Gene]
  • LOC130000009:ATAC-STARR-seq lymphoblastoid active region 27093 [Gene]
  • LOC130000010:ATAC-STARR-seq lymphoblastoid active region 27094 [Gene]
  • LOC130000011:ATAC-STARR-seq lymphoblastoid active region 27095 [Gene]
  • LOC130000013:ATAC-STARR-seq lymphoblastoid active region 27096 [Gene]
  • LOC130000015:ATAC-STARR-seq lymphoblastoid active region 27097 [Gene]
  • LOC130000016:ATAC-STARR-seq lymphoblastoid active region 27100 [Gene]
  • LOC129999962:ATAC-STARR-seq lymphoblastoid silent region 18973 [Gene]
  • LOC129999964:ATAC-STARR-seq lymphoblastoid silent region 18974 [Gene]
  • LOC129999968:ATAC-STARR-seq lymphoblastoid silent region 18975 [Gene]
  • LOC129999969:ATAC-STARR-seq lymphoblastoid silent region 18976 [Gene]
  • LOC129999970:ATAC-STARR-seq lymphoblastoid silent region 18977 [Gene]
  • LOC129999971:ATAC-STARR-seq lymphoblastoid silent region 18978 [Gene]
  • LOC129999973:ATAC-STARR-seq lymphoblastoid silent region 18979 [Gene]
  • LOC129999974:ATAC-STARR-seq lymphoblastoid silent region 18980 [Gene]
  • LOC129999975:ATAC-STARR-seq lymphoblastoid silent region 18981 [Gene]
  • LOC129999976:ATAC-STARR-seq lymphoblastoid silent region 18982 [Gene]
  • LOC129999977:ATAC-STARR-seq lymphoblastoid silent region 18984 [Gene]
  • LOC129999979:ATAC-STARR-seq lymphoblastoid silent region 18985 [Gene]
  • LOC129999980:ATAC-STARR-seq lymphoblastoid silent region 18986 [Gene]
  • LOC129999982:ATAC-STARR-seq lymphoblastoid silent region 18989 [Gene]
  • LOC129999984:ATAC-STARR-seq lymphoblastoid silent region 18990 [Gene]
  • LOC129999985:ATAC-STARR-seq lymphoblastoid silent region 18991 [Gene]
  • LOC129999986:ATAC-STARR-seq lymphoblastoid silent region 18994 [Gene]
  • LOC129999987:ATAC-STARR-seq lymphoblastoid silent region 18995 [Gene]
  • LOC129999988:ATAC-STARR-seq lymphoblastoid silent region 18996 [Gene]
  • LOC129999989:ATAC-STARR-seq lymphoblastoid silent region 18997 [Gene]
  • LOC129999990:ATAC-STARR-seq lymphoblastoid silent region 18998 [Gene]
  • LOC129999991:ATAC-STARR-seq lymphoblastoid silent region 18999 [Gene]
  • LOC129999992:ATAC-STARR-seq lymphoblastoid silent region 19000 [Gene]
  • LOC129999993:ATAC-STARR-seq lymphoblastoid silent region 19001 [Gene]
  • LOC129999995:ATAC-STARR-seq lymphoblastoid silent region 19003 [Gene]
  • LOC129999996:ATAC-STARR-seq lymphoblastoid silent region 19004 [Gene]
  • LOC129999997:ATAC-STARR-seq lymphoblastoid silent region 19006 [Gene]
  • LOC129999999:ATAC-STARR-seq lymphoblastoid silent region 19008 [Gene]
  • LOC130000000:ATAC-STARR-seq lymphoblastoid silent region 19009 [Gene]
  • LOC130000001:ATAC-STARR-seq lymphoblastoid silent region 19010 [Gene]
  • LOC130000002:ATAC-STARR-seq lymphoblastoid silent region 19011 [Gene]
  • LOC130000003:ATAC-STARR-seq lymphoblastoid silent region 19012 [Gene]
  • LOC130000012:ATAC-STARR-seq lymphoblastoid silent region 19013 [Gene]
  • LOC130000014:ATAC-STARR-seq lymphoblastoid silent region 19015 [Gene]
  • LOC130000017:ATAC-STARR-seq lymphoblastoid silent region 19017 [Gene]
  • LOC130000018:ATAC-STARR-seq lymphoblastoid silent region 19018 [Gene]
  • LOC130000019:ATAC-STARR-seq lymphoblastoid silent region 19019 [Gene]
  • BIN3-IT1:BIN3 intronic transcript 1 [Gene - HGNC]
  • LOC126860323:BRD4-independent group 4 enhancer GRCh37_chr8:22048316-22049515 [Gene]
  • LOC113788269:BRD4-independent group 4 enhancer GRCh37_chr8:22052064-22053263 [Gene]
  • LOC116186923:CRISPRi-validated cis-regulatory element chr8.740 [Gene]
  • FHIP2B:FHF complex subunit HOOK interacting protein 2B [Gene - OMIM - HGNC]
  • GFRA2:GDNF family receptor alpha 2 [Gene - OMIM - HGNC]
  • HR:HR lysine demethylase and nuclear receptor corepressor [Gene - OMIM - HGNC]
  • HRURF:HR upstream open reading frame [Gene - OMIM - HGNC]
  • LOC126860325:MED14-independent group 3 enhancer GRCh37_chr8:22601507-22602706 [Gene]
  • LOC129389963:MPRA-validated peak6937 silencer [Gene]
  • LOC129389964:MPRA-validated peak6940 silencer [Gene]
  • LOC132089588:Neanderthal introgressed variant-containing enhancer experimental_102784 [Gene]
  • LOC132089589:Neanderthal introgressed variant-containing enhancer experimental_102790 [Gene]
  • LOC132089590:Neanderthal introgressed variant-containing enhancer experimental_102823 [Gene]
  • LOC132089591:Neanderthal introgressed variant-containing enhancer experimental_102829 [Gene]
  • LOC132090784:Neanderthal introgressed variant-containing enhancer experimental_102832 [Gene]
  • LOC132089592:Neanderthal introgressed variant-containing enhancer experimental_102836 [Gene]
  • LOC132089593:Neanderthal introgressed variant-containing enhancer experimental_102848 [Gene]
  • LOC132090785:Neanderthal introgressed variant-containing enhancer experimental_102863 [Gene]
  • LOC132089594:Neanderthal introgressed variant-containing enhancer experimental_102872 [Gene]
  • LOC132089595:Neanderthal introgressed variant-containing enhancer experimental_102873 [Gene]
  • LOC126860324:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:22084886-22086085 [Gene]
  • PDLIM2:PDZ and LIM domain 2 [Gene - OMIM - HGNC]
  • PIWIL2-DT:PIWIL2 divergent transcript [Gene - HGNC]
  • POLR3D:RNA polymerase III subunit D [Gene - OMIM - HGNC]
  • RHOBTB2:Rho related BTB domain containing 2 [Gene - OMIM - HGNC]
  • LOC124153119:Sharpr-MPRA regulatory region 10265 [Gene]
  • LOC124153118:Sharpr-MPRA regulatory region 11422 [Gene]
  • LOC124153120:Sharpr-MPRA regulatory region 12029 [Gene]
  • LOC124153117:Sharpr-MPRA regulatory region 13343 [Gene]
  • LOC124153121:Sharpr-MPRA regulatory region 3420 [Gene]
  • LOC121294076:Sharpr-MPRA regulatory region 3596 [Gene]
  • LOC114827823:VISTA enhancer hs1927 [Gene]
  • LOC110120768:VISTA enhancer hs781 [Gene]
  • LOC110120769:VISTA enhancer hs782 [Gene]
  • LOC110120770:VISTA enhancer hs783 [Gene]
  • BMP1:bone morphogenetic protein 1 [Gene - OMIM - HGNC]
  • BIN3:bridging integrator 3 [Gene - OMIM - HGNC]
  • CCAR2:cell cycle and apoptosis regulator 2 [Gene - OMIM - HGNC]
  • C8orf58:chromosome 8 open reading frame 58 [Gene - HGNC]
  • DMTN:dematin actin binding protein [Gene - OMIM - HGNC]
  • DOK2:docking protein 2 [Gene - OMIM - HGNC]
  • EGR3:early growth response 3 [Gene - OMIM - HGNC]
  • XPO7:exportin 7 [Gene - OMIM - HGNC]
  • FGF17:fibroblast growth factor 17 [Gene - OMIM - HGNC]
  • LGI3:leucine rich repeat LGI family member 3 [Gene - OMIM - HGNC]
  • LOC128772327:melanoma risk locus-associated MPRA allelic enhancer 8:21964802 [Gene]
  • LOC128772328:melanoma risk locus-associated MPRA allelic enhancer 8:22014424 [Gene]
  • MIR320A:microRNA 320a [Gene - OMIM - HGNC]
  • NPM2:nucleophosmin/nucleoplasmin 2 [Gene - OMIM - HGNC]
  • NUDT18:nudix hydrolase 18 [Gene - OMIM - HGNC]
  • PEBP4:phosphatidylethanolamine binding protein 4 [Gene - OMIM - HGNC]
  • PHYHIP:phytanoyl-CoA 2-hydroxylase interacting protein [Gene - OMIM - HGNC]
  • PIWIL2:piwi like RNA-mediated gene silencing 2 [Gene - OMIM - HGNC]
  • PPP3CC:protein phosphatase 3 catalytic subunit gamma [Gene - OMIM - HGNC]
  • REEP4:receptor accessory protein 4 [Gene - OMIM - HGNC]
  • SLC39A14:solute carrier family 39 member 14 [Gene - OMIM - HGNC]
  • SORBS3:sorbin and SH3 domain containing 3 [Gene - OMIM - HGNC]
  • SFTPC:surfactant protein C [Gene - OMIM - HGNC]
  • LOC101929237:uncharacterized LOC101929237 [Gene]
  • LOC107986876:uncharacterized LOC107986876 [Gene]
Variant type:
copy number gain
Cytogenetic location:
8p21.3
Genomic location:
Preferred name:
GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3
HGVS:
  • NC_000008.11:g.(?_21654619)_(23001935_?)dup
  • NC_000008.10:g.(?_21512131)_(22859448_?)dup
  • NC_000008.9:g.(?_21556411)_(22915393_?)dup
Links:
dbVar: nssv579084; dbVar: nsv532299
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
SCV000080999GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 GeneDx, SCV000080999.4

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

Last Updated: Oct 14, 2023