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GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1 AND See cases

Germline classification:
Pathogenic (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:
RCV000138134.6

Allele description [Variation Report for GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1]

GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1

Genes:
  • LOC130000877:ATAC-STARR-seq lymphoblastoid active region 27730 [Gene]
  • LOC130000878:ATAC-STARR-seq lymphoblastoid active region 27732 [Gene]
  • LOC130000879:ATAC-STARR-seq lymphoblastoid active region 27733 [Gene]
  • LOC130000880:ATAC-STARR-seq lymphoblastoid active region 27734 [Gene]
  • LOC130000881:ATAC-STARR-seq lymphoblastoid active region 27735 [Gene]
  • LOC130000882:ATAC-STARR-seq lymphoblastoid active region 27736 [Gene]
  • LOC130000884:ATAC-STARR-seq lymphoblastoid active region 27737 [Gene]
  • LOC130000885:ATAC-STARR-seq lymphoblastoid active region 27738 [Gene]
  • LOC130000886:ATAC-STARR-seq lymphoblastoid active region 27739 [Gene]
  • LOC130000887:ATAC-STARR-seq lymphoblastoid active region 27740 [Gene]
  • LOC130000888:ATAC-STARR-seq lymphoblastoid active region 27741 [Gene]
  • LOC130000889:ATAC-STARR-seq lymphoblastoid active region 27742 [Gene]
  • LOC130000890:ATAC-STARR-seq lymphoblastoid active region 27743 [Gene]
  • LOC130000893:ATAC-STARR-seq lymphoblastoid active region 27744 [Gene]
  • LOC130000894:ATAC-STARR-seq lymphoblastoid active region 27745 [Gene]
  • LOC130000895:ATAC-STARR-seq lymphoblastoid active region 27746 [Gene]
  • LOC130000896:ATAC-STARR-seq lymphoblastoid active region 27747 [Gene]
  • LOC130000898:ATAC-STARR-seq lymphoblastoid active region 27748 [Gene]
  • LOC130000899:ATAC-STARR-seq lymphoblastoid active region 27749 [Gene]
  • LOC130000900:ATAC-STARR-seq lymphoblastoid active region 27750 [Gene]
  • LOC130000901:ATAC-STARR-seq lymphoblastoid active region 27751 [Gene]
  • LOC130000902:ATAC-STARR-seq lymphoblastoid active region 27752 [Gene]
  • LOC130000904:ATAC-STARR-seq lymphoblastoid active region 27753 [Gene]
  • LOC130000906:ATAC-STARR-seq lymphoblastoid active region 27755 [Gene]
  • LOC130000907:ATAC-STARR-seq lymphoblastoid active region 27756 [Gene]
  • LOC130000908:ATAC-STARR-seq lymphoblastoid active region 27757 [Gene]
  • LOC130000909:ATAC-STARR-seq lymphoblastoid active region 27758 [Gene]
  • LOC130000910:ATAC-STARR-seq lymphoblastoid active region 27759 [Gene]
  • LOC130000911:ATAC-STARR-seq lymphoblastoid active region 27760 [Gene]
  • LOC130000912:ATAC-STARR-seq lymphoblastoid active region 27761 [Gene]
  • LOC130000913:ATAC-STARR-seq lymphoblastoid active region 27763 [Gene]
  • LOC130000914:ATAC-STARR-seq lymphoblastoid active region 27764 [Gene]
  • LOC130000915:ATAC-STARR-seq lymphoblastoid active region 27765 [Gene]
  • LOC130000916:ATAC-STARR-seq lymphoblastoid active region 27766 [Gene]
  • LOC130000917:ATAC-STARR-seq lymphoblastoid active region 27767 [Gene]
  • LOC130000918:ATAC-STARR-seq lymphoblastoid active region 27768 [Gene]
  • LOC130000920:ATAC-STARR-seq lymphoblastoid active region 27769 [Gene]
  • LOC130000921:ATAC-STARR-seq lymphoblastoid active region 27770 [Gene]
  • LOC130000922:ATAC-STARR-seq lymphoblastoid active region 27771 [Gene]
  • LOC130000923:ATAC-STARR-seq lymphoblastoid active region 27772 [Gene]
  • LOC130000924:ATAC-STARR-seq lymphoblastoid active region 27773 [Gene]
  • LOC130000925:ATAC-STARR-seq lymphoblastoid active region 27777 [Gene]
  • LOC130000928:ATAC-STARR-seq lymphoblastoid active region 27778 [Gene]
  • LOC130000929:ATAC-STARR-seq lymphoblastoid active region 27779 [Gene]
  • LOC130000931:ATAC-STARR-seq lymphoblastoid active region 27780 [Gene]
  • LOC130000932:ATAC-STARR-seq lymphoblastoid active region 27781 [Gene]
  • LOC130000934:ATAC-STARR-seq lymphoblastoid active region 27782 [Gene]
  • LOC130000936:ATAC-STARR-seq lymphoblastoid active region 27783 [Gene]
  • LOC130000937:ATAC-STARR-seq lymphoblastoid active region 27784 [Gene]
  • LOC130000941:ATAC-STARR-seq lymphoblastoid active region 27785 [Gene]
  • LOC130000942:ATAC-STARR-seq lymphoblastoid active region 27786 [Gene]
  • LOC130000943:ATAC-STARR-seq lymphoblastoid active region 27787 [Gene]
  • LOC130000945:ATAC-STARR-seq lymphoblastoid active region 27789 [Gene]
  • LOC130000946:ATAC-STARR-seq lymphoblastoid active region 27790 [Gene]
  • LOC130000948:ATAC-STARR-seq lymphoblastoid active region 27792 [Gene]
  • LOC130000949:ATAC-STARR-seq lymphoblastoid active region 27793 [Gene]
  • LOC130000950:ATAC-STARR-seq lymphoblastoid active region 27794 [Gene]
  • LOC130000951:ATAC-STARR-seq lymphoblastoid active region 27795 [Gene]
  • LOC130000952:ATAC-STARR-seq lymphoblastoid active region 27796 [Gene]
  • LOC130000956:ATAC-STARR-seq lymphoblastoid active region 27798 [Gene]
  • LOC130000959:ATAC-STARR-seq lymphoblastoid active region 27799 [Gene]
  • LOC130000960:ATAC-STARR-seq lymphoblastoid active region 27800 [Gene]
  • LOC130000961:ATAC-STARR-seq lymphoblastoid active region 27801 [Gene]
  • LOC130000964:ATAC-STARR-seq lymphoblastoid active region 27802 [Gene]
  • LOC130000965:ATAC-STARR-seq lymphoblastoid active region 27803 [Gene]
  • LOC130000875:ATAC-STARR-seq lymphoblastoid silent region 19431 [Gene]
  • LOC130000876:ATAC-STARR-seq lymphoblastoid silent region 19432 [Gene]
  • LOC130000883:ATAC-STARR-seq lymphoblastoid silent region 19433 [Gene]
  • LOC130000891:ATAC-STARR-seq lymphoblastoid silent region 19434 [Gene]
  • LOC130000892:ATAC-STARR-seq lymphoblastoid silent region 19435 [Gene]
  • LOC130000897:ATAC-STARR-seq lymphoblastoid silent region 19436 [Gene]
  • LOC130000903:ATAC-STARR-seq lymphoblastoid silent region 19437 [Gene]
  • LOC130000905:ATAC-STARR-seq lymphoblastoid silent region 19440 [Gene]
  • LOC127460072:ATAC-STARR-seq lymphoblastoid silent region 19442 [Gene]
  • LOC130000919:ATAC-STARR-seq lymphoblastoid silent region 19444 [Gene]
  • LOC130000926:ATAC-STARR-seq lymphoblastoid silent region 19445 [Gene]
  • LOC130000927:ATAC-STARR-seq lymphoblastoid silent region 19446 [Gene]
  • LOC130000930:ATAC-STARR-seq lymphoblastoid silent region 19447 [Gene]
  • LOC130000933:ATAC-STARR-seq lymphoblastoid silent region 19449 [Gene]
  • LOC130000935:ATAC-STARR-seq lymphoblastoid silent region 19450 [Gene]
  • LOC130000938:ATAC-STARR-seq lymphoblastoid silent region 19451 [Gene]
  • LOC130000939:ATAC-STARR-seq lymphoblastoid silent region 19452 [Gene]
  • LOC130000940:ATAC-STARR-seq lymphoblastoid silent region 19453 [Gene]
  • LOC130000944:ATAC-STARR-seq lymphoblastoid silent region 19454 [Gene]
  • LOC130000947:ATAC-STARR-seq lymphoblastoid silent region 19459 [Gene]
  • LOC130000953:ATAC-STARR-seq lymphoblastoid silent region 19460 [Gene]
  • LOC130000954:ATAC-STARR-seq lymphoblastoid silent region 19461 [Gene]
  • LOC130000955:ATAC-STARR-seq lymphoblastoid silent region 19462 [Gene]
  • LOC130000957:ATAC-STARR-seq lymphoblastoid silent region 19463 [Gene]
  • LOC130000958:ATAC-STARR-seq lymphoblastoid silent region 19464 [Gene]
  • LOC130000962:ATAC-STARR-seq lymphoblastoid silent region 19465 [Gene]
  • LOC130000963:ATAC-STARR-seq lymphoblastoid silent region 19466 [Gene]
  • LOC130000966:ATAC-STARR-seq lymphoblastoid silent region 19467 [Gene]
  • LOC130000967:ATAC-STARR-seq lymphoblastoid silent region 19468 [Gene]
  • ATP6V1C1:ATPase H+ transporting V1 subunit C1 [Gene - OMIM - HGNC]
  • BAALC-AS1:BAALC antisense RNA 1 [Gene - HGNC]
  • BAALC-AS2:BAALC antisense RNA 2 [Gene - HGNC]
  • BAALC:BAALC binder of MAP3K1 and KLF4 [Gene - OMIM - HGNC]
  • LOC126860462:BRD4-independent group 4 enhancer GRCh37_chr8:102762302-102763501 [Gene]
  • LOC126860469:BRD4-independent group 4 enhancer GRCh37_chr8:106814445-106815644 [Gene]
  • LOC126860461:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:102655529-102656728 [Gene]
  • LOC124174307:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:103548698-103549897 [Gene]
  • LOC126860465:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:104292515-104293714 [Gene]
  • DCAF13:DDB1 and CUL4 associated factor 13 [Gene - OMIM - HGNC]
  • EMC2:ER membrane protein complex subunit 2 [Gene - OMIM - HGNC]
  • GRHL2-DT:GRHL2 divergent transcript [Gene - HGNC]
  • KLF10:KLF transcription factor 10 [Gene - OMIM - HGNC]
  • LOC128897169:KLF10-I enhancer [Gene]
  • LRP12:LDL receptor related protein 12 [Gene - OMIM - HGNC]
  • LOC126860460:MED14-independent group 3 enhancer GRCh37_chr8:102299618-102300817 [Gene]
  • LOC126860463:MED14-independent group 3 enhancer GRCh37_chr8:103248510-103249709 [Gene]
  • LOC126860464:MED14-independent group 3 enhancer GRCh37_chr8:103918088-103919287 [Gene]
  • LOC126860466:MED14-independent group 3 enhancer GRCh37_chr8:105481037-105482236 [Gene]
  • LOC126860470:MED14-independent group 3 enhancer GRCh37_chr8:106965782-106966981 [Gene]
  • LOC126860472:MED14-independent group 3 enhancer GRCh37_chr8:108116572-108117771 [Gene]
  • LOC129390029:MPRA-validated peak7131 silencer [Gene]
  • LOC129390030:MPRA-validated peak7132 silencer [Gene]
  • LOC129390031:MPRA-validated peak7134 silencer [Gene]
  • LOC129390032:MPRA-validated peak7135 silencer [Gene]
  • LOC129390033:MPRA-validated peak7137 silencer [Gene]
  • LOC129390034:MPRA-validated peak7138 silencer [Gene]
  • LOC129390035:MPRA-validated peak7139 silencer [Gene]
  • LOC129390036:MPRA-validated peak7140 silencer [Gene]
  • LOC129390037:MPRA-validated peak7142 silencer [Gene]
  • LOC129390038:MPRA-validated peak7143 silencer [Gene]
  • LOC129390039:MPRA-validated peak7144 silencer [Gene]
  • LOC129390040:MPRA-validated peak7146 silencer [Gene]
  • LOC132089556:Neanderthal introgressed variant-containing enhancer experimental_100837 [Gene]
  • OXR1-AS1:OXR1 antisense RNA 1 [Gene - HGNC]
  • LOC126860467:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:105677029-105678228 [Gene]
  • LOC126860468:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:106081351-106082550 [Gene]
  • LOC126860471:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:107072226-107073425 [Gene]
  • RSPO2:R-spondin 2 [Gene - OMIM - HGNC]
  • LOC113783881:Sharpr-MPRA regulatory region 12229 [Gene]
  • LOC124174313:Sharpr-MPRA regulatory region 12644 [Gene]
  • LOC124174309:Sharpr-MPRA regulatory region 12948 [Gene]
  • LOC121331308:Sharpr-MPRA regulatory region 13468 [Gene]
  • LOC124174311:Sharpr-MPRA regulatory region 2116 [Gene]
  • LOC124174315:Sharpr-MPRA regulatory region 222 [Gene]
  • LOC124174308:Sharpr-MPRA regulatory region 4303 [Gene]
  • LOC121740724:Sharpr-MPRA regulatory region 4487 [Gene]
  • LOC124174305:Sharpr-MPRA regulatory region 4694 [Gene]
  • LOC124174314:Sharpr-MPRA regulatory region 5201 [Gene]
  • LOC124174312:Sharpr-MPRA regulatory region 520 [Gene]
  • LOC114004410:Sharpr-MPRA regulatory region 6081 [Gene]
  • LOC113783880:Sharpr-MPRA regulatory region 791 [Gene]
  • LOC124174316:Sharpr-MPRA regulatory region 8108 [Gene]
  • LOC124174306:Sharpr-MPRA regulatory region 8570 [Gene]
  • LOC124174303:Sharpr-MPRA regulatory region 9085 [Gene]
  • LOC124174310:Sharpr-MPRA regulatory region 950 [Gene]
  • LOC124174304:Sharpr-MPRA regulatory region 9664 [Gene]
  • UBR5-DT:UBR5 divergent transcript [Gene - HGNC]
  • LOC110121208:VISTA enhancer hs1800 [Gene]
  • LOC110120608:VISTA enhancer hs195 [Gene]
  • ZFPM2-AS1:ZFPM2 antisense RNA 1 [Gene - HGNC]
  • ABRA:actin binding Rho activating protein [Gene - OMIM - HGNC]
  • ANGPT1:angiopoietin 1 [Gene - OMIM - HGNC]
  • AZIN1:antizyme inhibitor 1 [Gene - OMIM - HGNC]
  • CTHRC1:collagen triple helix repeat containing 1 [Gene - OMIM - HGNC]
  • DCSTAMP:dendrocyte expressed seven transmembrane protein [Gene - OMIM - HGNC]
  • DPYS:dihydropyrimidinase [Gene - OMIM - HGNC]
  • EIF3E:eukaryotic translation initiation factor 3 subunit E [Gene - OMIM - HGNC]
  • FZD6:frizzled class receptor 6 [Gene - OMIM - HGNC]
  • GRHL2:grainyhead like transcription factor 2 [Gene - OMIM - HGNC]
  • GASAL1:growth arrest associated lncRNA 1 [Gene - HGNC]
  • LINC01181:long intergenic non-protein coding RNA 1181 [Gene - HGNC]
  • LINC02844:long intergenic non-protein coding RNA 2844 [Gene - HGNC]
  • LINC03084:long intergenic non-protein coding RNA 3084 [Gene - HGNC]
  • MAILR:macrophage interferon regulatory lncRNA [Gene - HGNC]
  • MIR3151:microRNA 3151 [Gene - HGNC]
  • MIR548A3:microRNA 548a-3 [Gene - HGNC]
  • MIR5680:microRNA 5680 [Gene - HGNC]
  • NCALD:neurocalcin delta [Gene - OMIM - HGNC]
  • ODF1:outer dense fiber of sperm tails 1 [Gene - OMIM - HGNC]
  • OXR1:oxidation resistance 1 [Gene - OMIM - HGNC]
  • RIMS2:regulating synaptic membrane exocytosis 2 [Gene - OMIM - HGNC]
  • RRM2B:ribonucleotide reductase regulatory TP53 inducible subunit M2B [Gene - OMIM - HGNC]
  • SNORD173:small nucleolar RNA, C/D box 173 [Gene - HGNC]
  • SLC25A32:solute carrier family 25 member 32 [Gene - OMIM - HGNC]
  • TRHR:thyrotropin releasing hormone receptor [Gene - OMIM - HGNC]
  • TMEM74:transmembrane protein 74 [Gene - OMIM - HGNC]
  • UBR5:ubiquitin protein ligase E3 component n-recognin 5 [Gene - OMIM - HGNC]
  • LOC101927245:uncharacterized LOC101927245 [Gene]
  • LOC101927413:uncharacterized LOC101927413 [Gene]
  • LOC104054148:uncharacterized LOC104054148 [Gene]
  • LOC105369147:uncharacterized LOC105369147 [Gene]
  • LOC105375683:uncharacterized LOC105375683 [Gene]
  • LOC105375690:uncharacterized LOC105375690 [Gene]
  • ZNF706:zinc finger protein 706 [Gene - OMIM - HGNC]
  • ZFPM2:zinc finger protein, FOG family member 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
8q22.3-23.1
Genomic location:
Preferred name:
GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1
HGVS:
  • NC_000008.11:g.(?_101171263)_(109127664_?)del
  • NC_000008.10:g.(?_102183491)_(110139893_?)del
  • NC_000008.9:g.(?_102252667)_(110209069_?)del
Links:
dbVar: nssv1494917; dbVar: nsv869331
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
SCV000178399ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Jun 1, 2012) 		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

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, SCV000178399.4

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

Last Updated: Sep 1, 2024