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GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)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:
RCV000050620.6

Allele description [Variation Report for GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3]

GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3

Genes:
  • AGPAT5:1-acylglycerol-3-phosphate O-acyltransferase 5 [Gene - OMIM - HGNC]
  • LOC129999772:ATAC-STARR-seq lymphoblastoid active region 26939 [Gene]
  • LOC129999773:ATAC-STARR-seq lymphoblastoid active region 26940 [Gene]
  • LOC129999774:ATAC-STARR-seq lymphoblastoid active region 26941 [Gene]
  • LOC129999775:ATAC-STARR-seq lymphoblastoid active region 26942 [Gene]
  • LOC129999777:ATAC-STARR-seq lymphoblastoid active region 26944 [Gene]
  • LOC129999778:ATAC-STARR-seq lymphoblastoid active region 26945 [Gene]
  • LOC129999781:ATAC-STARR-seq lymphoblastoid active region 26946 [Gene]
  • LOC129999783:ATAC-STARR-seq lymphoblastoid active region 26948 [Gene]
  • LOC129999784:ATAC-STARR-seq lymphoblastoid active region 26949 [Gene]
  • LOC129999785:ATAC-STARR-seq lymphoblastoid active region 26950 [Gene]
  • LOC129999786:ATAC-STARR-seq lymphoblastoid active region 26951 [Gene]
  • LOC129999787:ATAC-STARR-seq lymphoblastoid active region 26952 [Gene]
  • LOC129999791:ATAC-STARR-seq lymphoblastoid active region 26953 [Gene]
  • LOC129999792:ATAC-STARR-seq lymphoblastoid active region 26954 [Gene]
  • LOC129999793:ATAC-STARR-seq lymphoblastoid active region 26955 [Gene]
  • LOC129999795:ATAC-STARR-seq lymphoblastoid active region 26956 [Gene]
  • LOC129999796:ATAC-STARR-seq lymphoblastoid active region 26957 [Gene]
  • LOC129999797:ATAC-STARR-seq lymphoblastoid active region 26958 [Gene]
  • LOC129999798:ATAC-STARR-seq lymphoblastoid active region 26959 [Gene]
  • LOC129999799:ATAC-STARR-seq lymphoblastoid active region 26960 [Gene]
  • LOC129999803:ATAC-STARR-seq lymphoblastoid active region 26961 [Gene]
  • LOC129999776:ATAC-STARR-seq lymphoblastoid silent region 18878 [Gene]
  • LOC129999779:ATAC-STARR-seq lymphoblastoid silent region 18880 [Gene]
  • LOC129999780:ATAC-STARR-seq lymphoblastoid silent region 18881 [Gene]
  • LOC129999782:ATAC-STARR-seq lymphoblastoid silent region 18882 [Gene]
  • LOC129999788:ATAC-STARR-seq lymphoblastoid silent region 18883 [Gene]
  • LOC129999789:ATAC-STARR-seq lymphoblastoid silent region 18884 [Gene]
  • LOC129999790:ATAC-STARR-seq lymphoblastoid silent region 18885 [Gene]
  • LOC129999794:ATAC-STARR-seq lymphoblastoid silent region 18886 [Gene]
  • LOC129999800:ATAC-STARR-seq lymphoblastoid silent region 18887 [Gene]
  • LOC129999801:ATAC-STARR-seq lymphoblastoid silent region 18889 [Gene]
  • LOC129999802:ATAC-STARR-seq lymphoblastoid silent region 18890 [Gene]
  • LOC126860276:BRD4-independent group 4 enhancer GRCh37_chr8:1580608-1581807 [Gene]
  • LOC126860280:BRD4-independent group 4 enhancer GRCh37_chr8:1854442-1855641 [Gene]
  • LOC126860282:BRD4-independent group 4 enhancer GRCh37_chr8:2053383-2054582 [Gene]
  • LOC126088091:BRD4-independent group 4 enhancer GRCh37_chr8:2206168-2207367 duplicate 1 [Gene]
  • LOC126088092:BRD4-independent group 4 enhancer GRCh37_chr8:2206168-2207367 duplicate 2 [Gene]
  • LOC126860285:BRD4-independent group 4 enhancer GRCh37_chr8:2964721-2965920 [Gene]
  • LOC126860287:BRD4-independent group 4 enhancer GRCh37_chr8:3350221-3351420 [Gene]
  • LOC126860288:BRD4-independent group 4 enhancer GRCh37_chr8:5311453-5312652 [Gene]
  • LOC126860290:BRD4-independent group 4 enhancer GRCh37_chr8:6247558-6248757 [Gene]
  • LOC126860291:BRD4-independent group 4 enhancer GRCh37_chr8:6385720-6386919 [Gene]
  • LOC126860267:BRD4-independent group 4 enhancer GRCh37_chr8:914952-916151 [Gene]
  • LOC126860268:BRD4-independent group 4 enhancer GRCh37_chr8:945571-946770 [Gene]
  • LOC126860269:BRD4-independent group 4 enhancer GRCh37_chr8:963216-964415 [Gene]
  • LOC126860270:BRD4-independent group 4 enhancer GRCh37_chr8:966834-968033 [Gene]
  • LOC126860271:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1106443-1107642 [Gene]
  • LOC126860273:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1265413-1266612 [Gene]
  • LOC126860274:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1403885-1405084 [Gene]
  • LOC126860275:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1552920-1554119 [Gene]
  • LOC126860278:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1748222-1749421 [Gene]
  • LOC126860279:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1791725-1792924 [Gene]
  • LOC126860281:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1870370-1871569 [Gene]
  • LOC126264116:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:2049318-2050517 [Gene]
  • LOC126860283:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:2362643-2363842 [Gene]
  • LOC126860284:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:2734767-2735966 [Gene]
  • CLN8-AS1:CLN8 antisense RNA 1 [Gene - HGNC]
  • CLN8:CLN8 transmembrane ER and ERGIC protein [Gene - OMIM - HGNC]
  • CSMD1:CUB and Sushi multiple domains 1 [Gene - OMIM - HGNC]
  • DLGAP2:DLG associated protein 2 [Gene - OMIM - HGNC]
  • DLGAP2-AS1:DLGAP2 antisense RNA 1 [Gene - HGNC]
  • FBXO25:F-box protein 25 [Gene - OMIM - HGNC]
  • KBTBD11-AS1:KBTBD11 antisense RNA 1 [Gene - HGNC]
  • KBTBD11-OT1:KBTBD11 overlapping transcript 1 [Gene - HGNC]
  • MCPH1-AS1:MCPH1 antisense RNA 1 [Gene - HGNC]
  • MCPH1-DT:MCPH1 divergent transcript [Gene - HGNC]
  • LOC126860286:MED14-independent group 3 enhancer GRCh37_chr8:3025942-3027141 [Gene]
  • LOC129389951:MPRA-validated peak6884 silencer [Gene]
  • LOC129389952:MPRA-validated peak6885 silencer [Gene]
  • LOC129389953:MPRA-validated peak6892 silencer [Gene]
  • LOC132089596:Neanderthal introgressed variant-containing enhancer experimental_102978 [Gene]
  • LOC132089598:Neanderthal introgressed variant-containing enhancer experimental_103217 [Gene]
  • LOC132089602:Neanderthal introgressed variant-containing enhancer experimental_103308 [Gene]
  • LOC132089603:Neanderthal introgressed variant-containing enhancer experimental_103459 [Gene]
  • LOC132089604:Neanderthal introgressed variant-containing enhancer experimental_103492 [Gene]
  • LOC126860272:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:1137192-1138391 [Gene]
  • LOC126860277:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:1703542-1704741 [Gene]
  • LOC126860266:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:580473-581672 [Gene]
  • LOC126860289:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:6170563-6171762 [Gene]
  • LOC126860292:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:6456108-6457307 [Gene]
  • LOC126860293:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:6505663-6506862 [Gene]
  • ARHGEF10:Rho guanine nucleotide exchange factor 10 [Gene - OMIM - HGNC]
  • LOC113788289:Sharpr-MPRA regulatory region 12268 [Gene]
  • LOC123987607:Sharpr-MPRA regulatory region 12422 [Gene]
  • LOC123987613:Sharpr-MPRA regulatory region 12768 [Gene]
  • LOC123987612:Sharpr-MPRA regulatory region 14576 [Gene]
  • LOC113788286:Sharpr-MPRA regulatory region 1718 [Gene]
  • LOC123987606:Sharpr-MPRA regulatory region 1960 [Gene]
  • LOC123987611:Sharpr-MPRA regulatory region 617 [Gene]
  • LOC123987604:Sharpr-MPRA regulatory region 700 [Gene]
  • LOC123987608:Sharpr-MPRA regulatory region 746 [Gene]
  • LOC121740708:Sharpr-MPRA regulatory region 8503 [Gene]
  • LOC123987609:Sharpr-MPRA regulatory region 9194 [Gene]
  • LOC123987605:Sharpr-MPRA regulatory region 9258 [Gene]
  • LOC123987610:Sharpr-MPRA regulatory region 9772 [Gene]
  • LOC114827837:VISTA enhancer hs2514 [Gene]
  • XKR5:XK related 5 [Gene - HGNC]
  • ANGPT2:angiopoietin 2 [Gene - OMIM - HGNC]
  • LOC106783493:conserved acetylation island sequence 7 enhancer [Gene]
  • DEFA1:defensin alpha 1 [Gene - OMIM - HGNC]
  • DEFA1B:defensin alpha 1B [Gene - HGNC]
  • DEFA3:defensin alpha 3 [Gene - OMIM - HGNC]
  • DEFA4:defensin alpha 4 [Gene - OMIM - HGNC]
  • DEFA5:defensin alpha 5 [Gene - OMIM - HGNC]
  • DEFA6:defensin alpha 6 [Gene - OMIM - HGNC]
  • DEFB103A:defensin beta 103A [Gene - HGNC]
  • DEFB103B:defensin beta 103B [Gene - OMIM - HGNC]
  • DEFB104A:defensin beta 104A [Gene - HGNC]
  • DEFB104B:defensin beta 104B [Gene - HGNC]
  • DEFB105A:defensin beta 105A [Gene - HGNC]
  • DEFB105B:defensin beta 105B [Gene - HGNC]
  • DEFB106A:defensin beta 106A [Gene - HGNC]
  • DEFB106B:defensin beta 106B [Gene - HGNC]
  • DEFB107A:defensin beta 107A [Gene - HGNC]
  • DEFB107B:defensin beta 107B [Gene - HGNC]
  • DEFB109B:defensin beta 109B [Gene - HGNC]
  • DEFB1:defensin beta 1 [Gene - OMIM - HGNC]
  • DEFB4A:defensin beta 4A [Gene - OMIM - HGNC]
  • DEFB4B:defensin beta 4B [Gene - HGNC]
  • FAM66B:family with sequence similarity 66 member B [Gene - HGNC]
  • FAM87A:family with sequence similarity 87 member A [Gene - HGNC]
  • FAM90A10:family with sequence similarity 90 member A10 [Gene - OMIM - HGNC]
  • FAM90A13:family with sequence similarity 90 member A13 [Gene - OMIM - HGNC]
  • FAM90A14:family with sequence similarity 90 member A14 [Gene - OMIM - HGNC]
  • FAM90A15:family with sequence similarity 90 member A15 [Gene - OMIM - HGNC]
  • FAM90A16:family with sequence similarity 90 member A16 [Gene - HGNC]
  • FAM90A17:family with sequence similarity 90 member A17 [Gene - HGNC]
  • FAM90A18:family with sequence similarity 90 member A18 [Gene - OMIM - HGNC]
  • FAM90A19:family with sequence similarity 90 member A19 [Gene - OMIM - HGNC]
  • FAM90A20:family with sequence similarity 90 member A20 [Gene - OMIM - HGNC]
  • FAM90A22:family with sequence similarity 90 member A22 [Gene - HGNC]
  • FAM90A23:family with sequence similarity 90 member A23 [Gene - HGNC]
  • FAM90A3:family with sequence similarity 90 member A3 [Gene - OMIM - HGNC]
  • FAM90A5:family with sequence similarity 90 member A5 [Gene - OMIM - HGNC]
  • FAM90A7:family with sequence similarity 90 member A7 [Gene - OMIM - HGNC]
  • FAM90A8:family with sequence similarity 90 member A8 [Gene - OMIM - HGNC]
  • FAM90A9:family with sequence similarity 90 member A9 [Gene - OMIM - HGNC]
  • ERICH1:glutamate rich 1 [Gene - HGNC]
  • KBTBD11:kelch repeat and BTB domain containing 11 [Gene - OMIM - HGNC]
  • LINC03021:long intergenic non-protein coding RNA 3021 [Gene - HGNC]
  • LINC00965:long intergenic non-protein coding RNA 965 [Gene - HGNC]
  • LOC107522030:meiotic recombination hotspot CF [Gene]
  • MIR3674:microRNA 3674 [Gene - HGNC]
  • MIR4659A:microRNA 4659a [Gene - HGNC]
  • MIR4659B:microRNA 4659b [Gene - HGNC]
  • MIR596:microRNA 596 [Gene - HGNC]
  • MIR7160:microRNA 7160 [Gene - HGNC]
  • MIR8055:microRNA 8055 [Gene - HGNC]
  • MCPH1:microcephalin 1 [Gene - OMIM - HGNC]
  • MYOM2:myomesin 2 [Gene - OMIM - HGNC]
  • PRR23D1:proline rich 23 domain containing 1 [Gene - HGNC]
  • PRR23D2:proline rich 23 domain containing 2 [Gene - HGNC]
  • LOC128966594:putative protein FAM90A9P [Gene]
  • SPAG11A:sperm associated antigen 11A [Gene - HGNC]
  • SPAG11B:sperm associated antigen 11B [Gene - OMIM - HGNC]
  • TDRP:testis development related protein [Gene - OMIM - HGNC]
  • USP17L1:ubiquitin specific peptidase 17 like family member 1 [Gene - HGNC]
  • USP17L4:ubiquitin specific peptidase 17 like family member 4 [Gene - HGNC]
  • GS1-24F4.2:uncharacterized LOC100652791 [Gene]
  • LOC101928095:uncharacterized LOC101928095 [Gene]
  • LOC105377777:uncharacterized LOC105377777 [Gene]
  • LOC105377785:uncharacterized LOC105377785 [Gene]
  • LOC105377796:uncharacterized LOC105377796 [Gene]
  • LOC286083:uncharacterized LOC286083 [Gene]
  • LOC401442:uncharacterized LOC401442 [Gene]
  • ZNF596:zinc finger protein 596 [Gene - HGNC]
  • ZNF705G:zinc finger protein 705G [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
8p23.3-23.1
Genomic location:
Preferred name:
GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3
HGVS:
  • NC_000008.11:g.(?_241530)_(7895064_?)dup
  • NC_000008.10:g.(?_191530)_(7752586_?)dup
  • NC_000008.9:g.(?_181530)_(7789996_?)dup
Links:
dbVar: nssv579064; dbVar: nsv1067729
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
SCV000077950ISCA 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, SCV000077950.4

#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