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GRCh38/hg38 11p15.4(chr11:7995676-10437205)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 1, 2013
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:
RCV000143490.7

Allele description [Variation Report for GRCh38/hg38 11p15.4(chr11:7995676-10437205)x3]

GRCh38/hg38 11p15.4(chr11:7995676-10437205)x3

Genes:
  • AKIP1:A-kinase interacting protein 1 [Gene - OMIM - HGNC]
  • ADM-DT:ADM divergent transcript [Gene - HGNC]
  • LOC130005240:ATAC-STARR-seq lymphoblastoid active region 4381 [Gene]
  • LOC130005242:ATAC-STARR-seq lymphoblastoid active region 4382 [Gene]
  • LOC130005243:ATAC-STARR-seq lymphoblastoid active region 4383 [Gene]
  • LOC130005244:ATAC-STARR-seq lymphoblastoid active region 4384 [Gene]
  • LOC130005245:ATAC-STARR-seq lymphoblastoid active region 4385 [Gene]
  • LOC130005246:ATAC-STARR-seq lymphoblastoid active region 4386 [Gene]
  • LOC130005248:ATAC-STARR-seq lymphoblastoid active region 4389 [Gene]
  • LOC130005249:ATAC-STARR-seq lymphoblastoid active region 4390 [Gene]
  • LOC130005250:ATAC-STARR-seq lymphoblastoid active region 4392 [Gene]
  • LOC130005252:ATAC-STARR-seq lymphoblastoid active region 4394 [Gene]
  • LOC130005253:ATAC-STARR-seq lymphoblastoid active region 4395 [Gene]
  • LOC130005254:ATAC-STARR-seq lymphoblastoid active region 4396 [Gene]
  • LOC130005255:ATAC-STARR-seq lymphoblastoid active region 4397 [Gene]
  • LOC130005260:ATAC-STARR-seq lymphoblastoid active region 4398 [Gene]
  • LOC130005261:ATAC-STARR-seq lymphoblastoid active region 4399 [Gene]
  • LOC130005262:ATAC-STARR-seq lymphoblastoid active region 4400 [Gene]
  • LOC130005263:ATAC-STARR-seq lymphoblastoid active region 4401 [Gene]
  • LOC130005264:ATAC-STARR-seq lymphoblastoid active region 4402 [Gene]
  • LOC130005266:ATAC-STARR-seq lymphoblastoid active region 4403 [Gene]
  • LOC130005267:ATAC-STARR-seq lymphoblastoid active region 4404 [Gene]
  • LOC130005270:ATAC-STARR-seq lymphoblastoid active region 4405 [Gene]
  • LOC130005271:ATAC-STARR-seq lymphoblastoid active region 4406 [Gene]
  • LOC130005272:ATAC-STARR-seq lymphoblastoid active region 4407 [Gene]
  • LOC130005273:ATAC-STARR-seq lymphoblastoid active region 4408 [Gene]
  • LOC130005276:ATAC-STARR-seq lymphoblastoid active region 4409 [Gene]
  • LOC130005281:ATAC-STARR-seq lymphoblastoid active region 4410 [Gene]
  • LOC130005282:ATAC-STARR-seq lymphoblastoid active region 4411 [Gene]
  • LOC130005283:ATAC-STARR-seq lymphoblastoid active region 4412 [Gene]
  • LOC130005284:ATAC-STARR-seq lymphoblastoid active region 4415 [Gene]
  • LOC130005286:ATAC-STARR-seq lymphoblastoid active region 4416 [Gene]
  • LOC130005287:ATAC-STARR-seq lymphoblastoid active region 4417 [Gene]
  • LOC130005288:ATAC-STARR-seq lymphoblastoid active region 4418 [Gene]
  • LOC130005289:ATAC-STARR-seq lymphoblastoid active region 4419 [Gene]
  • LOC130005291:ATAC-STARR-seq lymphoblastoid active region 4420 [Gene]
  • LOC130005292:ATAC-STARR-seq lymphoblastoid active region 4421 [Gene]
  • LOC130005293:ATAC-STARR-seq lymphoblastoid active region 4422 [Gene]
  • LOC130005294:ATAC-STARR-seq lymphoblastoid active region 4423 [Gene]
  • LOC130005295:ATAC-STARR-seq lymphoblastoid active region 4424 [Gene]
  • LOC130005297:ATAC-STARR-seq lymphoblastoid active region 4425 [Gene]
  • LOC130005300:ATAC-STARR-seq lymphoblastoid active region 4426 [Gene]
  • LOC130005305:ATAC-STARR-seq lymphoblastoid active region 4427 [Gene]
  • LOC130005306:ATAC-STARR-seq lymphoblastoid active region 4428 [Gene]
  • LOC130005307:ATAC-STARR-seq lymphoblastoid active region 4429 [Gene]
  • LOC130005308:ATAC-STARR-seq lymphoblastoid active region 4430 [Gene]
  • LOC130005315:ATAC-STARR-seq lymphoblastoid active region 4431 [Gene]
  • LOC130005239:ATAC-STARR-seq lymphoblastoid silent region 3112 [Gene]
  • LOC130005241:ATAC-STARR-seq lymphoblastoid silent region 3113 [Gene]
  • LOC130005247:ATAC-STARR-seq lymphoblastoid silent region 3114 [Gene]
  • LOC130005251:ATAC-STARR-seq lymphoblastoid silent region 3116 [Gene]
  • LOC130005256:ATAC-STARR-seq lymphoblastoid silent region 3117 [Gene]
  • LOC130005257:ATAC-STARR-seq lymphoblastoid silent region 3118 [Gene]
  • LOC130005258:ATAC-STARR-seq lymphoblastoid silent region 3119 [Gene]
  • LOC130005259:ATAC-STARR-seq lymphoblastoid silent region 3120 [Gene]
  • LOC130005265:ATAC-STARR-seq lymphoblastoid silent region 3121 [Gene]
  • LOC130005268:ATAC-STARR-seq lymphoblastoid silent region 3122 [Gene]
  • LOC130005269:ATAC-STARR-seq lymphoblastoid silent region 3123 [Gene]
  • LOC130005274:ATAC-STARR-seq lymphoblastoid silent region 3126 [Gene]
  • LOC130005275:ATAC-STARR-seq lymphoblastoid silent region 3127 [Gene]
  • LOC130005277:ATAC-STARR-seq lymphoblastoid silent region 3128 [Gene]
  • LOC130005278:ATAC-STARR-seq lymphoblastoid silent region 3131 [Gene]
  • LOC130005279:ATAC-STARR-seq lymphoblastoid silent region 3132 [Gene]
  • LOC130005280:ATAC-STARR-seq lymphoblastoid silent region 3133 [Gene]
  • LOC130005285:ATAC-STARR-seq lymphoblastoid silent region 3134 [Gene]
  • LOC130005290:ATAC-STARR-seq lymphoblastoid silent region 3135 [Gene]
  • LOC130005296:ATAC-STARR-seq lymphoblastoid silent region 3136 [Gene]
  • LOC130005298:ATAC-STARR-seq lymphoblastoid silent region 3137 [Gene]
  • LOC130005299:ATAC-STARR-seq lymphoblastoid silent region 3138 [Gene]
  • LOC130005301:ATAC-STARR-seq lymphoblastoid silent region 3139 [Gene]
  • LOC130005302:ATAC-STARR-seq lymphoblastoid silent region 3140 [Gene]
  • LOC130005303:ATAC-STARR-seq lymphoblastoid silent region 3141 [Gene]
  • LOC130005304:ATAC-STARR-seq lymphoblastoid silent region 3142 [Gene]
  • LOC130005309:ATAC-STARR-seq lymphoblastoid silent region 3143 [Gene]
  • LOC130005310:ATAC-STARR-seq lymphoblastoid silent region 3144 [Gene]
  • LOC130005311:ATAC-STARR-seq lymphoblastoid silent region 3145 [Gene]
  • LOC130005312:ATAC-STARR-seq lymphoblastoid silent region 3146 [Gene]
  • LOC130005313:ATAC-STARR-seq lymphoblastoid silent region 3147 [Gene]
  • LOC130005314:ATAC-STARR-seq lymphoblastoid silent region 3148 [Gene]
  • LOC130005316:ATAC-STARR-seq lymphoblastoid silent region 3149 [Gene]
  • LOC126861132:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:8016231-8017430 [Gene]
  • LOC126861134:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:9190693-9191892 [Gene]
  • LOC116216129:CRISPRi-validated cis-regulatory element chr11.1006 [Gene]
  • DENND2B:DENN domain containing 2B [Gene - OMIM - HGNC]
  • DENND5A:DENN domain containing 5A [Gene - OMIM - HGNC]
  • DENND2B-AS1:DENND2B antisense RNA 1 [Gene - HGNC]
  • LMO1:LIM domain only 1 [Gene - OMIM - HGNC]
  • LOC126861136:MED14-independent group 3 enhancer GRCh37_chr11:10004023-10005222 [Gene]
  • LOC126861137:MED14-independent group 3 enhancer GRCh37_chr11:10065715-10066914 [Gene]
  • LOC126861133:MED14-independent group 3 enhancer GRCh37_chr11:8703769-8704968 [Gene]
  • LOC129390256:MPRA-validated peak1191 silencer [Gene]
  • LOC129390257:MPRA-validated peak1192 silencer [Gene]
  • NRIP3-DT:NRIP3 divergent transcript [Gene - HGNC]
  • LOC126861135:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:9385258-9386457 [Gene]
  • RIC3:RIC3 acetylcholine receptor chaperone [Gene - OMIM - HGNC]
  • RIC3-DT:RIC3 divergent transcript [Gene - HGNC]
  • SBF2-AS1:SBF2 antisense RNA 1 [Gene - HGNC]
  • SBF2:SET binding factor 2 [Gene - OMIM - HGNC]
  • LOC121832786:Sharpr-MPRA regulatory region 11418 [Gene]
  • LOC124418426:Sharpr-MPRA regulatory region 11606 [Gene]
  • LOC124421482:Sharpr-MPRA regulatory region 210 [Gene]
  • LOC112136092:Sharpr-MPRA regulatory region 3983 [Gene]
  • LOC124421483:Sharpr-MPRA regulatory region 6386 [Gene]
  • LOC124421484:Sharpr-MPRA regulatory region 7754 [Gene]
  • LOC121832785:Sharpr-MPRA regulatory region 8819 [Gene]
  • LOC112136094:Sharpr-MPRA regulatory region 9656 [Gene]
  • TMEM9B:TMEM9 domain family member B [Gene - OMIM - HGNC]
  • TMEM9B-AS1:TMEM9B antisense RNA 1 [Gene - HGNC]
  • TUB-AS1:TUB antisense RNA 1 [Gene - HGNC]
  • TUB:TUB bipartite transcription factor [Gene - OMIM - HGNC]
  • LOC110121453:VISTA enhancer hs1859 [Gene]
  • LOC114827852:VISTA enhancer hs2289 [Gene]
  • WEE1:WEE1 G2 checkpoint kinase [Gene - OMIM - HGNC]
  • ZNF143-AS1:ZNF143 antisense RNA 1 [Gene - HGNC]
  • ASCL3:achaete-scute family bHLH transcription factor 3 [Gene - OMIM - HGNC]
  • ADM:adrenomedullin [Gene - OMIM - HGNC]
  • CASC23:cancer susceptibility 23 [Gene - HGNC]
  • C11orf16:chromosome 11 open reading frame 16 [Gene - HGNC]
  • EIF3F:eukaryotic translation initiation factor 3 subunit F [Gene - OMIM - HGNC]
  • IPO7:importin 7 [Gene - OMIM - HGNC]
  • LINC02709:long intergenic non-protein coding RNA 2709 [Gene - HGNC]
  • MIR5691:microRNA 5691 [Gene - HGNC]
  • NRIP3:nuclear receptor interacting protein 3 [Gene - OMIM - HGNC]
  • RPL27A:ribosomal protein L27a [Gene - OMIM - HGNC]
  • STK33:serine/threonine kinase 33 [Gene - OMIM - HGNC]
  • SCUBE2:signal peptide, CUB domain and EGF like domain containing 2 [Gene - OMIM - HGNC]
  • SNORA23:small nucleolar RNA, H/ACA box 23 [Gene - HGNC]
  • SNORA3A:small nucleolar RNA, H/ACA box 3A [Gene - HGNC]
  • SNORA3B:small nucleolar RNA, H/ACA box 3B [Gene - OMIM - HGNC]
  • SWAP70:switching B cell complex subunit SWAP70 [Gene - OMIM - HGNC]
  • TRL-CAA5-1:tRNA-Leu (CAA) 5-1 [Gene - HGNC]
  • TMEM41B:transmembrane protein 41B [Gene - OMIM - HGNC]
  • TRIM66:tripartite motif containing 66 [Gene - OMIM - HGNC]
  • CAND1.11:uncharacterized LOC100130460 [Gene]
  • LOC101928008:uncharacterized LOC101928008 [Gene]
  • LOC105369149:uncharacterized LOC105369149 [Gene]
  • ZNF143:zinc finger protein 143 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
GRCh38/hg38 11p15.4(chr11:7995676-10437205)x3
HGVS:
  • NC_000011.10:g.(?_7995676)_(10437205_?)dup
  • NC_000011.9:g.(?_8017223)_(10458752_?)dup
Links:
dbVar: nssv3397102; dbVar: nsv995508
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
SCV000182931ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Jul 1, 2013) 		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

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, SCV000182931.4

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

Last Updated: Sep 1, 2024