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GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)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:
RCV000053648.6

Allele description [Variation Report for GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3]

GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3

Genes:
  • ADAM18:ADAM metallopeptidase domain 18 [Gene - OMIM - HGNC]
  • ADAM2:ADAM metallopeptidase domain 2 [Gene - OMIM - HGNC]
  • ADAM32:ADAM metallopeptidase domain 32 [Gene - OMIM - HGNC]
  • LOC100130964:ADAM metallopeptidase domain 3A-like [Gene]
  • ADAM9:ADAM metallopeptidase domain 9 [Gene - OMIM - HGNC]
  • ASH2L:ASH2 like, histone lysine methyltransferase complex subunit [Gene - OMIM - HGNC]
  • LOC130000215:ATAC-STARR-seq lymphoblastoid active region 27239 [Gene]
  • LOC130000216:ATAC-STARR-seq lymphoblastoid active region 27240 [Gene]
  • LOC130000218:ATAC-STARR-seq lymphoblastoid active region 27241 [Gene]
  • LOC130000220:ATAC-STARR-seq lymphoblastoid active region 27245 [Gene]
  • LOC130000221:ATAC-STARR-seq lymphoblastoid active region 27246 [Gene]
  • LOC130000225:ATAC-STARR-seq lymphoblastoid active region 27247 [Gene]
  • LOC130000231:ATAC-STARR-seq lymphoblastoid active region 27250 [Gene]
  • LOC130000234:ATAC-STARR-seq lymphoblastoid active region 27253 [Gene]
  • LOC130000235:ATAC-STARR-seq lymphoblastoid active region 27254 [Gene]
  • LOC130000238:ATAC-STARR-seq lymphoblastoid active region 27255 [Gene]
  • LOC130000239:ATAC-STARR-seq lymphoblastoid active region 27256 [Gene]
  • LOC130000243:ATAC-STARR-seq lymphoblastoid active region 27257 [Gene]
  • LOC130000244:ATAC-STARR-seq lymphoblastoid active region 27258 [Gene]
  • LOC130000246:ATAC-STARR-seq lymphoblastoid active region 27259 [Gene]
  • LOC130000247:ATAC-STARR-seq lymphoblastoid active region 27260 [Gene]
  • LOC130000248:ATAC-STARR-seq lymphoblastoid active region 27261 [Gene]
  • LOC130000249:ATAC-STARR-seq lymphoblastoid active region 27262 [Gene]
  • LOC130000250:ATAC-STARR-seq lymphoblastoid active region 27263 [Gene]
  • LOC130000251:ATAC-STARR-seq lymphoblastoid active region 27265 [Gene]
  • LOC130000252:ATAC-STARR-seq lymphoblastoid active region 27266 [Gene]
  • LOC130000255:ATAC-STARR-seq lymphoblastoid active region 27267 [Gene]
  • LOC130000256:ATAC-STARR-seq lymphoblastoid active region 27269 [Gene]
  • LOC130000257:ATAC-STARR-seq lymphoblastoid active region 27270 [Gene]
  • LOC130000259:ATAC-STARR-seq lymphoblastoid active region 27271 [Gene]
  • LOC130000260:ATAC-STARR-seq lymphoblastoid active region 27274 [Gene]
  • LOC130000261:ATAC-STARR-seq lymphoblastoid active region 27275 [Gene]
  • LOC130000263:ATAC-STARR-seq lymphoblastoid active region 27276 [Gene]
  • LOC130000264:ATAC-STARR-seq lymphoblastoid active region 27277 [Gene]
  • LOC130000266:ATAC-STARR-seq lymphoblastoid active region 27278 [Gene]
  • LOC130000267:ATAC-STARR-seq lymphoblastoid active region 27279 [Gene]
  • LOC130000268:ATAC-STARR-seq lymphoblastoid active region 27280 [Gene]
  • LOC130000269:ATAC-STARR-seq lymphoblastoid active region 27281 [Gene]
  • LOC130000271:ATAC-STARR-seq lymphoblastoid active region 27282 [Gene]
  • LOC130000272:ATAC-STARR-seq lymphoblastoid active region 27283 [Gene]
  • LOC130000273:ATAC-STARR-seq lymphoblastoid active region 27284 [Gene]
  • LOC130000275:ATAC-STARR-seq lymphoblastoid active region 27285 [Gene]
  • LOC130000276:ATAC-STARR-seq lymphoblastoid active region 27286 [Gene]
  • LOC130000277:ATAC-STARR-seq lymphoblastoid active region 27287 [Gene]
  • LOC130000280:ATAC-STARR-seq lymphoblastoid active region 27288 [Gene]
  • LOC130000281:ATAC-STARR-seq lymphoblastoid active region 27289 [Gene]
  • LOC130000282:ATAC-STARR-seq lymphoblastoid active region 27290 [Gene]
  • LOC130000283:ATAC-STARR-seq lymphoblastoid active region 27291 [Gene]
  • LOC130000285:ATAC-STARR-seq lymphoblastoid active region 27292 [Gene]
  • LOC130000286:ATAC-STARR-seq lymphoblastoid active region 27293 [Gene]
  • LOC130000287:ATAC-STARR-seq lymphoblastoid active region 27294 [Gene]
  • LOC130000288:ATAC-STARR-seq lymphoblastoid active region 27296 [Gene]
  • LOC130000290:ATAC-STARR-seq lymphoblastoid active region 27297 [Gene]
  • LOC130000291:ATAC-STARR-seq lymphoblastoid active region 27298 [Gene]
  • LOC130000292:ATAC-STARR-seq lymphoblastoid active region 27299 [Gene]
  • LOC130000294:ATAC-STARR-seq lymphoblastoid active region 27300 [Gene]
  • LOC130000295:ATAC-STARR-seq lymphoblastoid active region 27301 [Gene]
  • LOC130000296:ATAC-STARR-seq lymphoblastoid active region 27302 [Gene]
  • LOC130000297:ATAC-STARR-seq lymphoblastoid active region 27303 [Gene]
  • LOC130000298:ATAC-STARR-seq lymphoblastoid active region 27304 [Gene]
  • LOC130000300:ATAC-STARR-seq lymphoblastoid active region 27305 [Gene]
  • LOC130000214:ATAC-STARR-seq lymphoblastoid silent region 19113 [Gene]
  • LOC130000217:ATAC-STARR-seq lymphoblastoid silent region 19115 [Gene]
  • LOC130000219:ATAC-STARR-seq lymphoblastoid silent region 19116 [Gene]
  • LOC130000222:ATAC-STARR-seq lymphoblastoid silent region 19117 [Gene]
  • LOC130000223:ATAC-STARR-seq lymphoblastoid silent region 19119 [Gene]
  • LOC130000224:ATAC-STARR-seq lymphoblastoid silent region 19120 [Gene]
  • LOC130000226:ATAC-STARR-seq lymphoblastoid silent region 19122 [Gene]
  • LOC130000227:ATAC-STARR-seq lymphoblastoid silent region 19123 [Gene]
  • LOC130000228:ATAC-STARR-seq lymphoblastoid silent region 19125 [Gene]
  • LOC130000229:ATAC-STARR-seq lymphoblastoid silent region 19126 [Gene]
  • LOC130000230:ATAC-STARR-seq lymphoblastoid silent region 19127 [Gene]
  • LOC130000232:ATAC-STARR-seq lymphoblastoid silent region 19128 [Gene]
  • LOC130000233:ATAC-STARR-seq lymphoblastoid silent region 19129 [Gene]
  • LOC130000236:ATAC-STARR-seq lymphoblastoid silent region 19131 [Gene]
  • LOC130000237:ATAC-STARR-seq lymphoblastoid silent region 19132 [Gene]
  • LOC130000240:ATAC-STARR-seq lymphoblastoid silent region 19133 [Gene]
  • LOC130000241:ATAC-STARR-seq lymphoblastoid silent region 19134 [Gene]
  • LOC130000242:ATAC-STARR-seq lymphoblastoid silent region 19135 [Gene]
  • LOC130000245:ATAC-STARR-seq lymphoblastoid silent region 19136 [Gene]
  • LOC130000253:ATAC-STARR-seq lymphoblastoid silent region 19137 [Gene]
  • LOC130000254:ATAC-STARR-seq lymphoblastoid silent region 19138 [Gene]
  • LOC130000258:ATAC-STARR-seq lymphoblastoid silent region 19139 [Gene]
  • LOC130000262:ATAC-STARR-seq lymphoblastoid silent region 19140 [Gene]
  • LOC130000265:ATAC-STARR-seq lymphoblastoid silent region 19141 [Gene]
  • LOC130000270:ATAC-STARR-seq lymphoblastoid silent region 19142 [Gene]
  • LOC130000274:ATAC-STARR-seq lymphoblastoid silent region 19143 [Gene]
  • LOC130000278:ATAC-STARR-seq lymphoblastoid silent region 19144 [Gene]
  • LOC130000279:ATAC-STARR-seq lymphoblastoid silent region 19145 [Gene]
  • LOC130000284:ATAC-STARR-seq lymphoblastoid silent region 19146 [Gene]
  • LOC130000289:ATAC-STARR-seq lymphoblastoid silent region 19150 [Gene]
  • LOC130000293:ATAC-STARR-seq lymphoblastoid silent region 19153 [Gene]
  • LOC130000299:ATAC-STARR-seq lymphoblastoid silent region 19154 [Gene]
  • BAG4:BAG cochaperone 4 [Gene - OMIM - HGNC]
  • LOC126860362:BRD4-independent group 4 enhancer GRCh37_chr8:39038237-39039436 [Gene]
  • LOC126860364:BRD4-independent group 4 enhancer GRCh37_chr8:40206788-40207987 [Gene]
  • LOC126860366:BRD4-independent group 4 enhancer GRCh37_chr8:41013787-41014986 [Gene]
  • LOC126860368:BRD4-independent group 4 enhancer GRCh37_chr8:41541049-41542248 [Gene]
  • LOC126860369:BRD4-independent group 4 enhancer GRCh37_chr8:41570734-41571933 [Gene]
  • LOC126860371:BRD4-independent group 4 enhancer GRCh37_chr8:41656213-41657412 [Gene]
  • LOC126860367:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:41466108-41467307 [Gene]
  • LOC126860370:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:41592277-41593476 [Gene]
  • LOC126860373:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:42150166-42151365 [Gene]
  • LOC116186927:CRISPRi-validated cis-regulatory element chr8.1253 [Gene]
  • DDHD2:DDHD domain containing 2 [Gene - OMIM - HGNC]
  • POLB:DNA polymerase beta [Gene - OMIM - HGNC]
  • GINS4:GINS complex subunit 4 [Gene - OMIM - HGNC]
  • GPAT4-AS1:GPAT4 and GINS4 antisense RNA 1 [Gene - HGNC]
  • LOC111500313:HNF1 motif-containing MPRA enhancer 269 [Gene]
  • LOC111413020:HNF4 motif-containing MPRA enhancer 150 [Gene]
  • HTRA4:HtrA serine peptidase 4 [Gene - OMIM - HGNC]
  • IKBKB-DT:IKBKB divergent transcript [Gene - HGNC]
  • KAT6A-AS1:KAT6A antisense RNA 1 [Gene - HGNC]
  • LSM1:LSM1 homolog, mRNA degradation associated [Gene - OMIM - HGNC]
  • LOC126860361:MED14-independent group 3 enhancer GRCh37_chr8:38724712-38725911 [Gene]
  • LOC126860363:MED14-independent group 3 enhancer GRCh37_chr8:39084432-39085631 [Gene]
  • LOC126860365:MED14-independent group 3 enhancer GRCh37_chr8:40591963-40593162 [Gene]
  • LOC126860372:MED14-independent group 3 enhancer GRCh37_chr8:41675890-41677089 [Gene]
  • LOC129389982:MPRA-validated peak7001 silencer [Gene]
  • NKX6-3:NK6 homeobox 3 [Gene - OMIM - HGNC]
  • LOC107133509:NUP98-NSD3 recombination region [Gene]
  • LOC113788279:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:38385147-38386346 [Gene]
  • LOC113788281:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:41008706-41009905 [Gene]
  • LOC111828529:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:41649575-41650774 [Gene]
  • RAB11FIP1:RAB11 family interacting protein 1 [Gene - OMIM - HGNC]
  • SIRLNT:SIRT1 regulating lncRNA tumor promoter [Gene - HGNC]
  • LOC108863620:STAR 5' regulatory region [Gene]
  • LOC124153156:Sharpr-MPRA regulatory region 1046 [Gene]
  • LOC124153149:Sharpr-MPRA regulatory region 10821 [Gene]
  • LOC124153144:Sharpr-MPRA regulatory region 11218 [Gene]
  • LOC121331299:Sharpr-MPRA regulatory region 12355 [Gene]
  • LOC124153152:Sharpr-MPRA regulatory region 1248 [Gene]
  • LOC113788280:Sharpr-MPRA regulatory region 13542 [Gene]
  • LOC124153154:Sharpr-MPRA regulatory region 1462 [Gene]
  • LOC124153150:Sharpr-MPRA regulatory region 15086 [Gene]
  • LOC124153151:Sharpr-MPRA regulatory region 279 [Gene]
  • LOC124153153:Sharpr-MPRA regulatory region 3146 [Gene]
  • LOC124153155:Sharpr-MPRA regulatory region 338 [Gene]
  • LOC113788284:Sharpr-MPRA regulatory region 3603 [Gene]
  • LOC124153145:Sharpr-MPRA regulatory region 4493 [Gene]
  • LOC124153146:Sharpr-MPRA regulatory region 4585 [Gene]
  • LOC124153148:Sharpr-MPRA regulatory region 511 [Gene]
  • LOC121740715:Sharpr-MPRA regulatory region 5273 [Gene]
  • LOC113788278:Sharpr-MPRA regulatory region 54 [Gene]
  • LOC113788282:Sharpr-MPRA regulatory region 6451 [Gene]
  • LOC124153147:Sharpr-MPRA regulatory region 7766 [Gene]
  • LOC124153143:Sharpr-MPRA regulatory region 823 [Gene]
  • LOC124153157:Sharpr-MPRA regulatory region 9305 [Gene]
  • LOC121331300:Sharpr-MPRA regulatory region 9460 [Gene]
  • LOC113788283:Sharpr-MPRA regulatory region 9883 [Gene]
  • TM2D2:TM2 domain containing 2 [Gene - OMIM - HGNC]
  • AP3M2:adaptor related protein complex 3 subunit mu 2 [Gene - OMIM - HGNC]
  • ADRB3:adrenoceptor beta 3 [Gene - OMIM - HGNC]
  • ANK1:ankyrin 1 [Gene - OMIM - HGNC]
  • EIF4EBP1:eukaryotic translation initiation factor 4E binding protein 1 [Gene - OMIM - HGNC]
  • FGFR1:fibroblast growth factor receptor 1 [Gene - OMIM - HGNC]
  • GOT1L1:glutamic-oxaloacetic transaminase 1 like 1 [Gene - HGNC]
  • GPAT4:glycerol-3-phosphate acyltransferase 4 [Gene - OMIM - HGNC]
  • GOLGA7:golgin A7 [Gene - OMIM - HGNC]
  • IDO1:indoleamine 2,3-dioxygenase 1 [Gene - OMIM - HGNC]
  • IDO2:indoleamine 2,3-dioxygenase 2 [Gene - OMIM - HGNC]
  • IKBKB:inhibitor of nuclear factor kappa B kinase subunit beta [Gene - OMIM - HGNC]
  • LETM2:leucine zipper and EF-hand containing transmembrane protein 2 [Gene - OMIM - HGNC]
  • LINC02866:long intergenic non-protein coding RNA 2866 [Gene - HGNC]
  • LINC03042:long intergenic non-protein coding RNA 3042 [Gene - HGNC]
  • KAT6A:lysine acetyltransferase 6A [Gene - OMIM - HGNC]
  • MIR486-1:microRNA 486-1 [Gene - HGNC]
  • MIR486-2:microRNA 486-2 [Gene - HGNC]
  • MIR548AO:microRNA 548ao [Gene - HGNC]
  • NSD3:nuclear receptor binding SET domain protein 3 [Gene - OMIM - HGNC]
  • PLPP5:phospholipid phosphatase 5 [Gene - OMIM - HGNC]
  • PLAT:plasminogen activator, tissue type [Gene - OMIM - HGNC]
  • PLEKHA2:pleckstrin homology domain containing A2 [Gene - OMIM - HGNC]
  • SFRP1:secreted frizzled related protein 1 [Gene - OMIM - HGNC]
  • SNORD38D:small nucleolar RNA, C/D box 38D [Gene - HGNC]
  • SNORD65B:small nucleolar RNA, C/D box 65B [Gene - HGNC]
  • STAR:steroidogenic acute regulatory protein [Gene - OMIM - HGNC]
  • TCIM:transcriptional and immune response regulator [Gene - OMIM - HGNC]
  • TACC1:transforming acidic coiled-coil containing protein 1 [Gene - OMIM - HGNC]
  • LOC102723716:uncharacterized LOC102723716 [Gene]
  • LOC105379385:uncharacterized LOC105379385 [Gene]
  • ZMAT4:zinc finger matrin-type 4 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
8p11.23-11.21
Genomic location:
Preferred name:
GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)x3
HGVS:
  • NC_000008.11:g.(?_37899430)_(42371734_?)dup
  • NC_000008.10:g.(?_37756948)_(42229252_?)dup
  • NC_000008.9:g.(?_37876106)_(42348409_?)dup
Links:
dbVar: nssv579087; dbVar: nsv532311
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
SCV000081011GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		not providedclinical 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 GeneDx, SCV000081011.5

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

Last Updated: Sep 1, 2024