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GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1 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:
RCV000050658.6

Allele description [Variation Report for GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1]

GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1

Genes:
  • LOC129999805:ATAC-STARR-seq lymphoblastoid active region 26962 [Gene]
  • LOC129999807:ATAC-STARR-seq lymphoblastoid active region 26963 [Gene]
  • LOC129999808:ATAC-STARR-seq lymphoblastoid active region 26964 [Gene]
  • LOC129999809:ATAC-STARR-seq lymphoblastoid active region 26965 [Gene]
  • LOC129999811:ATAC-STARR-seq lymphoblastoid active region 26966 [Gene]
  • LOC129999817:ATAC-STARR-seq lymphoblastoid active region 26967 [Gene]
  • LOC129999818:ATAC-STARR-seq lymphoblastoid active region 26968 [Gene]
  • LOC129999819:ATAC-STARR-seq lymphoblastoid active region 26969 [Gene]
  • LOC129999820:ATAC-STARR-seq lymphoblastoid active region 26970 [Gene]
  • LOC129999821:ATAC-STARR-seq lymphoblastoid active region 26971 [Gene]
  • LOC129999822:ATAC-STARR-seq lymphoblastoid active region 26972 [Gene]
  • LOC129999824:ATAC-STARR-seq lymphoblastoid active region 26973 [Gene]
  • LOC129999825:ATAC-STARR-seq lymphoblastoid active region 26974 [Gene]
  • LOC129999826:ATAC-STARR-seq lymphoblastoid active region 26975 [Gene]
  • LOC129999827:ATAC-STARR-seq lymphoblastoid active region 26976 [Gene]
  • LOC129999828:ATAC-STARR-seq lymphoblastoid active region 26977 [Gene]
  • LOC129999830:ATAC-STARR-seq lymphoblastoid active region 26978 [Gene]
  • LOC129999831:ATAC-STARR-seq lymphoblastoid active region 26979 [Gene]
  • LOC129999834:ATAC-STARR-seq lymphoblastoid active region 26980 [Gene]
  • LOC129999835:ATAC-STARR-seq lymphoblastoid active region 26981 [Gene]
  • LOC129999837:ATAC-STARR-seq lymphoblastoid active region 26982 [Gene]
  • LOC129999838:ATAC-STARR-seq lymphoblastoid active region 26983 [Gene]
  • LOC129999839:ATAC-STARR-seq lymphoblastoid active region 26984 [Gene]
  • LOC129999840:ATAC-STARR-seq lymphoblastoid active region 26985 [Gene]
  • LOC129999841:ATAC-STARR-seq lymphoblastoid active region 26986 [Gene]
  • LOC129999843:ATAC-STARR-seq lymphoblastoid active region 26987 [Gene]
  • LOC129999844:ATAC-STARR-seq lymphoblastoid active region 26988 [Gene]
  • LOC129999847:ATAC-STARR-seq lymphoblastoid active region 26989 [Gene]
  • LOC129999848:ATAC-STARR-seq lymphoblastoid active region 26990 [Gene]
  • LOC129999849:ATAC-STARR-seq lymphoblastoid active region 26991 [Gene]
  • LOC129999850:ATAC-STARR-seq lymphoblastoid active region 26992 [Gene]
  • LOC129999851:ATAC-STARR-seq lymphoblastoid active region 26993 [Gene]
  • LOC129999854:ATAC-STARR-seq lymphoblastoid active region 26997 [Gene]
  • LOC129999860:ATAC-STARR-seq lymphoblastoid active region 26998 [Gene]
  • LOC129999861:ATAC-STARR-seq lymphoblastoid active region 26999 [Gene]
  • LOC129999863:ATAC-STARR-seq lymphoblastoid active region 27000 [Gene]
  • LOC129999864:ATAC-STARR-seq lymphoblastoid active region 27001 [Gene]
  • LOC129999868:ATAC-STARR-seq lymphoblastoid active region 27002 [Gene]
  • LOC129999870:ATAC-STARR-seq lymphoblastoid active region 27003 [Gene]
  • LOC129999871:ATAC-STARR-seq lymphoblastoid active region 27004 [Gene]
  • LOC129999872:ATAC-STARR-seq lymphoblastoid active region 27006 [Gene]
  • LOC129999875:ATAC-STARR-seq lymphoblastoid active region 27008 [Gene]
  • LOC129999877:ATAC-STARR-seq lymphoblastoid active region 27009 [Gene]
  • LOC129999879:ATAC-STARR-seq lymphoblastoid active region 27010 [Gene]
  • LOC129999880:ATAC-STARR-seq lymphoblastoid active region 27011 [Gene]
  • LOC129999881:ATAC-STARR-seq lymphoblastoid active region 27012 [Gene]
  • LOC129999882:ATAC-STARR-seq lymphoblastoid active region 27013 [Gene]
  • LOC129999883:ATAC-STARR-seq lymphoblastoid active region 27014 [Gene]
  • LOC129999885:ATAC-STARR-seq lymphoblastoid active region 27015 [Gene]
  • LOC129999886:ATAC-STARR-seq lymphoblastoid active region 27019 [Gene]
  • LOC129999887:ATAC-STARR-seq lymphoblastoid active region 27020 [Gene]
  • LOC129999888:ATAC-STARR-seq lymphoblastoid active region 27021 [Gene]
  • LOC129999889:ATAC-STARR-seq lymphoblastoid active region 27022 [Gene]
  • LOC129999890:ATAC-STARR-seq lymphoblastoid active region 27023 [Gene]
  • LOC129999891:ATAC-STARR-seq lymphoblastoid active region 27024 [Gene]
  • LOC129999892:ATAC-STARR-seq lymphoblastoid active region 27025 [Gene]
  • LOC129999893:ATAC-STARR-seq lymphoblastoid active region 27026 [Gene]
  • LOC129999894:ATAC-STARR-seq lymphoblastoid active region 27027 [Gene]
  • LOC129999896:ATAC-STARR-seq lymphoblastoid active region 27028 [Gene]
  • LOC129999897:ATAC-STARR-seq lymphoblastoid active region 27029 [Gene]
  • LOC129999898:ATAC-STARR-seq lymphoblastoid active region 27030 [Gene]
  • LOC129999901:ATAC-STARR-seq lymphoblastoid active region 27031 [Gene]
  • LOC129999902:ATAC-STARR-seq lymphoblastoid active region 27032 [Gene]
  • LOC129999905:ATAC-STARR-seq lymphoblastoid active region 27033 [Gene]
  • LOC129999908:ATAC-STARR-seq lymphoblastoid active region 27034 [Gene]
  • LOC129999909:ATAC-STARR-seq lymphoblastoid active region 27035 [Gene]
  • LOC129999910:ATAC-STARR-seq lymphoblastoid active region 27036 [Gene]
  • LOC129999911:ATAC-STARR-seq lymphoblastoid active region 27037 [Gene]
  • LOC129999912:ATAC-STARR-seq lymphoblastoid active region 27038 [Gene]
  • LOC129999804:ATAC-STARR-seq lymphoblastoid silent region 18891 [Gene]
  • LOC129999806:ATAC-STARR-seq lymphoblastoid silent region 18892 [Gene]
  • LOC129999810:ATAC-STARR-seq lymphoblastoid silent region 18893 [Gene]
  • LOC129999812:ATAC-STARR-seq lymphoblastoid silent region 18894 [Gene]
  • LOC129999813:ATAC-STARR-seq lymphoblastoid silent region 18895 [Gene]
  • LOC129999814:ATAC-STARR-seq lymphoblastoid silent region 18896 [Gene]
  • LOC129999815:ATAC-STARR-seq lymphoblastoid silent region 18897 [Gene]
  • LOC129999816:ATAC-STARR-seq lymphoblastoid silent region 18898 [Gene]
  • LOC129999823:ATAC-STARR-seq lymphoblastoid silent region 18899 [Gene]
  • LOC129999829:ATAC-STARR-seq lymphoblastoid silent region 18901 [Gene]
  • LOC129999832:ATAC-STARR-seq lymphoblastoid silent region 18903 [Gene]
  • LOC129999833:ATAC-STARR-seq lymphoblastoid silent region 18904 [Gene]
  • LOC129999836:ATAC-STARR-seq lymphoblastoid silent region 18906 [Gene]
  • LOC129999842:ATAC-STARR-seq lymphoblastoid silent region 18908 [Gene]
  • LOC129999845:ATAC-STARR-seq lymphoblastoid silent region 18909 [Gene]
  • LOC129999846:ATAC-STARR-seq lymphoblastoid silent region 18910 [Gene]
  • LOC129999852:ATAC-STARR-seq lymphoblastoid silent region 18914 [Gene]
  • LOC129999853:ATAC-STARR-seq lymphoblastoid silent region 18915 [Gene]
  • LOC129999855:ATAC-STARR-seq lymphoblastoid silent region 18917 [Gene]
  • LOC129999856:ATAC-STARR-seq lymphoblastoid silent region 18918 [Gene]
  • LOC129999857:ATAC-STARR-seq lymphoblastoid silent region 18919 [Gene]
  • LOC129999858:ATAC-STARR-seq lymphoblastoid silent region 18920 [Gene]
  • LOC129999859:ATAC-STARR-seq lymphoblastoid silent region 18921 [Gene]
  • LOC129999862:ATAC-STARR-seq lymphoblastoid silent region 18922 [Gene]
  • LOC129999865:ATAC-STARR-seq lymphoblastoid silent region 18923 [Gene]
  • LOC129999866:ATAC-STARR-seq lymphoblastoid silent region 18924 [Gene]
  • LOC129999867:ATAC-STARR-seq lymphoblastoid silent region 18925 [Gene]
  • LOC129999869:ATAC-STARR-seq lymphoblastoid silent region 18926 [Gene]
  • LOC129999873:ATAC-STARR-seq lymphoblastoid silent region 18929 [Gene]
  • LOC129999874:ATAC-STARR-seq lymphoblastoid silent region 18930 [Gene]
  • LOC129999876:ATAC-STARR-seq lymphoblastoid silent region 18931 [Gene]
  • LOC129999878:ATAC-STARR-seq lymphoblastoid silent region 18932 [Gene]
  • LOC129999884:ATAC-STARR-seq lymphoblastoid silent region 18933 [Gene]
  • LOC129999895:ATAC-STARR-seq lymphoblastoid silent region 18934 [Gene]
  • LOC129999899:ATAC-STARR-seq lymphoblastoid silent region 18935 [Gene]
  • LOC129999900:ATAC-STARR-seq lymphoblastoid silent region 18936 [Gene]
  • LOC129999903:ATAC-STARR-seq lymphoblastoid silent region 18940 [Gene]
  • LOC129999904:ATAC-STARR-seq lymphoblastoid silent region 18941 [Gene]
  • LOC129999906:ATAC-STARR-seq lymphoblastoid silent region 18942 [Gene]
  • LOC129999907:ATAC-STARR-seq lymphoblastoid silent region 18943 [Gene]
  • LOC129999913:ATAC-STARR-seq lymphoblastoid silent region 18944 [Gene]
  • LOC129999914:ATAC-STARR-seq lymphoblastoid silent region 18945 [Gene]
  • BLK:BLK proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • LOC126860301:BRD4-independent group 4 enhancer GRCh37_chr8:10938390-10939589 [Gene]
  • LOC126860294:BRD4-independent group 4 enhancer GRCh37_chr8:8101423-8102622 [Gene]
  • LOC126860297:BRD4-independent group 4 enhancer GRCh37_chr8:8324360-8325559 [Gene]
  • LOC126860298:BRD4-independent group 4 enhancer GRCh37_chr8:8522058-8523257 [Gene]
  • LOC126860300:BRD4-independent group 4 enhancer GRCh37_chr8:9240606-9241805 [Gene]
  • LOC126860302:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:11351829-11353028 [Gene]
  • LOC126860303:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:11407118-11408317 [Gene]
  • CRE3:CRE3 CAGE-defined tissue-specific enhancer [Gene]
  • LOC128462397:CRISPRi-FlowFISH-validated BLK regulatory element GRCh37_chr8:11349255-11350515 [Gene]
  • LOC116186920:CRISPRi-validated cis-regulatory element chr8.428 [Gene]
  • LOC116186921:CRISPRi-validated cis-regulatory element chr8.429 [Gene]
  • FAM167A-AS1:FAM167A antisense RNA 1 [Gene - HGNC]
  • GATA4:GATA binding protein 4 [Gene - OMIM - HGNC]
  • LOC111365225:HNF4 motif-containing MPRA enhancer 121 [Gene]
  • LOC126860296:MED14-independent group 3 enhancer GRCh37_chr8:8219633-8220832 [Gene]
  • MIR124-1HG:MIR124-1 host gene [Gene - HGNC]
  • LOC129389954:MPRA-validated peak6897 silencer [Gene]
  • LOC129389955:MPRA-validated peak6901 silencer [Gene]
  • LOC129389956:MPRA-validated peak6905 silencer [Gene]
  • LOC126860304:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:11424419-11425618 [Gene]
  • LOC126860295:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:8153089-8154288 [Gene]
  • LOC126860299:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:9046079-9047278 [Gene]
  • PRAG1:PEAK1 related, kinase-activating pseudokinase 1 [Gene - OMIM - HGNC]
  • PINX1:PIN2 (TERF1) interacting telomerase inhibitor 1 [Gene - OMIM - HGNC]
  • PINX1-DT:PINX1 divergent transcript [Gene - HGNC]
  • PPP1R3B-DT:PPP1R3B divergent transcript [Gene - HGNC]
  • RP1L1:RP1 like 1 [Gene - OMIM - HGNC]
  • SOX7:SRY-box transcription factor 7 [Gene - OMIM - HGNC]
  • LOC121268921:Sharpr-MPRA regulatory region 10233 [Gene]
  • LOC113788245:Sharpr-MPRA regulatory region 10445 [Gene]
  • LOC113788294:Sharpr-MPRA regulatory region 10847 [Gene]
  • LOC113788246:Sharpr-MPRA regulatory region 11637 [Gene]
  • LOC124049160:Sharpr-MPRA regulatory region 1187 [Gene]
  • LOC124049164:Sharpr-MPRA regulatory region 12781 [Gene]
  • LOC121740710:Sharpr-MPRA regulatory region 1846 [Gene]
  • LOC124049163:Sharpr-MPRA regulatory region 1954 [Gene]
  • LOC121740709:Sharpr-MPRA regulatory region 2598 [Gene]
  • LOC121268919:Sharpr-MPRA regulatory region 4717 [Gene]
  • LOC124049158:Sharpr-MPRA regulatory region 6714 [Gene]
  • LOC124049159:Sharpr-MPRA regulatory region 7090 [Gene]
  • LOC124049162:Sharpr-MPRA regulatory region 719 [Gene]
  • LOC121268920:Sharpr-MPRA regulatory region 7548 [Gene]
  • LOC113788244:Sharpr-MPRA regulatory region 9232 [Gene]
  • LOC124049161:Sharpr-MPRA regulatory region 9732 [Gene]
  • TDH-AS1:TDH antisense RNA 1 [Gene - HGNC]
  • LOC110121280:VISTA enhancer hs2204 [Gene]
  • LOC110121281:VISTA enhancer hs2205 [Gene]
  • LOC110120689:VISTA enhancer hs508 [Gene]
  • XKR6:XK related 6 [Gene - HGNC]
  • CTSB:cathepsin B [Gene - OMIM - HGNC]
  • C8orf74:chromosome 8 open reading frame 74 [Gene - HGNC]
  • CLDN23:claudin 23 [Gene - OMIM - HGNC]
  • DEFB130A:defensin beta 130A [Gene - HGNC]
  • DEFB130B:defensin beta 130B [Gene - HGNC]
  • DEFB134:defensin beta 134 [Gene - HGNC]
  • DEFB135:defensin beta 135 [Gene - HGNC]
  • DEFB136:defensin beta 136 [Gene - HGNC]
  • ERI1:exoribonuclease 1 [Gene - OMIM - HGNC]
  • FAM167A:family with sequence similarity 167 member A [Gene - OMIM - HGNC]
  • FAM66A:family with sequence similarity 66 member A [Gene - HGNC]
  • FAM66D:family with sequence similarity 66 member D [Gene - HGNC]
  • FAM85A:family with sequence similarity 85 member A [Gene - HGNC]
  • FAM85B:family with sequence similarity 85 member B [Gene - HGNC]
  • FAM86B1:family with sequence similarity 86 member B1 [Gene - OMIM - HGNC]
  • FDFT1:farnesyl-diphosphate farnesyltransferase 1 [Gene - OMIM - HGNC]
  • LINC00208:long intergenic non-protein coding RNA 208 [Gene - HGNC]
  • LINC02905:long intergenic non-protein coding RNA 2905 [Gene - HGNC]
  • LINC02949:long intergenic non-protein coding RNA 2949 [Gene - HGNC]
  • LINC02950:long intergenic non-protein coding RNA 2950 [Gene - HGNC]
  • LINC03022:long intergenic non-protein coding RNA 3022 [Gene - HGNC]
  • LINC00529:long intergenic non-protein coding RNA 529 [Gene - HGNC]
  • MSRA:methionine sulfoxide reductase A [Gene - OMIM - HGNC]
  • MIR124-1:microRNA 124-1 [Gene - OMIM - HGNC]
  • MIR1322:microRNA 1322 [Gene - HGNC]
  • MIR4286:microRNA 4286 [Gene - HGNC]
  • MIR4660:microRNA 4660 [Gene - HGNC]
  • MIR597:microRNA 597 [Gene - HGNC]
  • MIR598:microRNA 598 [Gene - HGNC]
  • MFHAS1:multifunctional ROCO family signaling regulator 1 [Gene - OMIM - HGNC]
  • MTMR9:myotubularin related protein 9 [Gene - OMIM - HGNC]
  • NEIL2:nei like DNA glycosylase 2 [Gene - OMIM - HGNC]
  • PPP1R3B:protein phosphatase 1 regulatory subunit 3B [Gene - OMIM - HGNC]
  • PRSS51:serine protease 51 [Gene - HGNC]
  • PRSS55:serine protease 55 [Gene - OMIM - HGNC]
  • SNORD3I:small nucleolar RNA, C/D box 3I [Gene - HGNC]
  • SNORA99:small nucleolar RNA, H/ACA box 99 [Gene - HGNC]
  • SLC35G5:solute carrier family 35 member G5 [Gene - OMIM - HGNC]
  • TNKS:tankyrase [Gene - OMIM - HGNC]
  • USP17L2:ubiquitin specific peptidase 17 like family member 2 [Gene - OMIM - HGNC]
  • USP17L7:ubiquitin specific peptidase 17 like family member 7 [Gene - HGNC]
  • LOC101929128:uncharacterized LOC101929128 [Gene]
  • LOC101929269:uncharacterized LOC101929269 [Gene]
  • LOC101929290:uncharacterized LOC101929290 [Gene]
  • LOC102723313:uncharacterized LOC102723313 [Gene]
  • LOC105379224:uncharacterized LOC105379224 [Gene]
  • LOC105379230:uncharacterized LOC105379230 [Gene]
  • LOC157273:uncharacterized LOC157273 [Gene]
  • ZNF705D:zinc finger protein 705D [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
8p23.1
Genomic location:
Preferred name:
GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1
HGVS:
  • NC_000008.11:g.(?_8222339)_(12383643_?)del
  • NC_000008.10:g.(?_8079861)_(12241152_?)del
  • NC_000008.9:g.(?_8117271)_(12285523_?)del
Links:
dbVar: nssv576921; dbVar: nsv529289
Observations:
1

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000077989ISCA site 4

See additional submitters

criteria provided, single submitter

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

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 ISCA site 4, SCV000077989.4

#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