U.S. flag

An official website of the United States government

GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 30, 2010
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:
RCV000136773.5

Allele description [Variation Report for GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1]

GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1

Genes:
  • ADM-DT:ADM divergent transcript [Gene - HGNC]
  • 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]
  • LOC130005317:ATAC-STARR-seq lymphoblastoid active region 4432 [Gene]
  • LOC130005318:ATAC-STARR-seq lymphoblastoid active region 4433 [Gene]
  • LOC130005322:ATAC-STARR-seq lymphoblastoid active region 4434 [Gene]
  • LOC130005323:ATAC-STARR-seq lymphoblastoid active region 4435 [Gene]
  • LOC130005324:ATAC-STARR-seq lymphoblastoid active region 4436 [Gene]
  • LOC130005325:ATAC-STARR-seq lymphoblastoid active region 4437 [Gene]
  • LOC130005326:ATAC-STARR-seq lymphoblastoid active region 4438 [Gene]
  • LOC130005327:ATAC-STARR-seq lymphoblastoid active region 4439 [Gene]
  • LOC130005328:ATAC-STARR-seq lymphoblastoid active region 4440 [Gene]
  • LOC130005329:ATAC-STARR-seq lymphoblastoid active region 4441 [Gene]
  • LOC130005330:ATAC-STARR-seq lymphoblastoid active region 4443 [Gene]
  • LOC130005331:ATAC-STARR-seq lymphoblastoid active region 4444 [Gene]
  • LOC130005332:ATAC-STARR-seq lymphoblastoid active region 4447 [Gene]
  • LOC130005333:ATAC-STARR-seq lymphoblastoid active region 4448 [Gene]
  • LOC130005334:ATAC-STARR-seq lymphoblastoid active region 4449 [Gene]
  • LOC130005336:ATAC-STARR-seq lymphoblastoid active region 4450 [Gene]
  • LOC130005337:ATAC-STARR-seq lymphoblastoid active region 4451 [Gene]
  • LOC130005340:ATAC-STARR-seq lymphoblastoid active region 4454 [Gene]
  • LOC130005343:ATAC-STARR-seq lymphoblastoid active region 4457 [Gene]
  • LOC130005344:ATAC-STARR-seq lymphoblastoid active region 4458 [Gene]
  • LOC130005345:ATAC-STARR-seq lymphoblastoid active region 4461 [Gene]
  • LOC130005347:ATAC-STARR-seq lymphoblastoid active region 4462 [Gene]
  • LOC130005354:ATAC-STARR-seq lymphoblastoid active region 4463 [Gene]
  • LOC130005355:ATAC-STARR-seq lymphoblastoid active region 4464 [Gene]
  • LOC130005356:ATAC-STARR-seq lymphoblastoid active region 4465 [Gene]
  • LOC130005359:ATAC-STARR-seq lymphoblastoid active region 4466 [Gene]
  • LOC130005360:ATAC-STARR-seq lymphoblastoid active region 4467 [Gene]
  • LOC130005361:ATAC-STARR-seq lymphoblastoid active region 4468 [Gene]
  • LOC130005362:ATAC-STARR-seq lymphoblastoid active region 4469 [Gene]
  • LOC130005363:ATAC-STARR-seq lymphoblastoid active region 4470 [Gene]
  • LOC130005364:ATAC-STARR-seq lymphoblastoid active region 4471 [Gene]
  • LOC130005365:ATAC-STARR-seq lymphoblastoid active region 4472 [Gene]
  • LOC130005369:ATAC-STARR-seq lymphoblastoid active region 4474 [Gene]
  • LOC130005372:ATAC-STARR-seq lymphoblastoid active region 4476 [Gene]
  • LOC130005373:ATAC-STARR-seq lymphoblastoid active region 4477 [Gene]
  • LOC130005377:ATAC-STARR-seq lymphoblastoid active region 4478 [Gene]
  • LOC130005381:ATAC-STARR-seq lymphoblastoid active region 4479 [Gene]
  • LOC130005382:ATAC-STARR-seq lymphoblastoid active region 4480 [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]
  • LOC130005319:ATAC-STARR-seq lymphoblastoid silent region 3150 [Gene]
  • LOC130005320:ATAC-STARR-seq lymphoblastoid silent region 3151 [Gene]
  • LOC130005321:ATAC-STARR-seq lymphoblastoid silent region 3152 [Gene]
  • LOC130005335:ATAC-STARR-seq lymphoblastoid silent region 3154 [Gene]
  • LOC130005338:ATAC-STARR-seq lymphoblastoid silent region 3155 [Gene]
  • LOC130005339:ATAC-STARR-seq lymphoblastoid silent region 3156 [Gene]
  • LOC130005341:ATAC-STARR-seq lymphoblastoid silent region 3157 [Gene]
  • LOC130005342:ATAC-STARR-seq lymphoblastoid silent region 3158 [Gene]
  • LOC130005346:ATAC-STARR-seq lymphoblastoid silent region 3160 [Gene]
  • LOC130005348:ATAC-STARR-seq lymphoblastoid silent region 3162 [Gene]
  • LOC130005349:ATAC-STARR-seq lymphoblastoid silent region 3163 [Gene]
  • LOC130005350:ATAC-STARR-seq lymphoblastoid silent region 3164 [Gene]
  • LOC130005351:ATAC-STARR-seq lymphoblastoid silent region 3165 [Gene]
  • LOC130005352:ATAC-STARR-seq lymphoblastoid silent region 3166 [Gene]
  • LOC130005353:ATAC-STARR-seq lymphoblastoid silent region 3167 [Gene]
  • LOC130005357:ATAC-STARR-seq lymphoblastoid silent region 3168 [Gene]
  • LOC130005358:ATAC-STARR-seq lymphoblastoid silent region 3169 [Gene]
  • LOC130005366:ATAC-STARR-seq lymphoblastoid silent region 3170 [Gene]
  • LOC130005367:ATAC-STARR-seq lymphoblastoid silent region 3171 [Gene]
  • LOC130005368:ATAC-STARR-seq lymphoblastoid silent region 3172 [Gene]
  • LOC130005370:ATAC-STARR-seq lymphoblastoid silent region 3173 [Gene]
  • LOC130005371:ATAC-STARR-seq lymphoblastoid silent region 3174 [Gene]
  • LOC130005374:ATAC-STARR-seq lymphoblastoid silent region 3175 [Gene]
  • LOC130005375:ATAC-STARR-seq lymphoblastoid silent region 3176 [Gene]
  • LOC130005376:ATAC-STARR-seq lymphoblastoid silent region 3177 [Gene]
  • LOC130005378:ATAC-STARR-seq lymphoblastoid silent region 3178 [Gene]
  • LOC130005379:ATAC-STARR-seq lymphoblastoid silent region 3179 [Gene]
  • LOC130005380:ATAC-STARR-seq lymphoblastoid silent region 3180 [Gene]
  • LOC126861149:BRD4-independent group 4 enhancer GRCh37_chr11:15583102-15584301 [Gene]
  • LOC126861150:BRD4-independent group 4 enhancer GRCh37_chr11:16823697-16824896 [Gene]
  • BTBD10:BTB domain containing 10 [Gene - OMIM - HGNC]
  • LOC126861139:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:10678394-10679593 [Gene]
  • LOC126861140:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:10785333-10786532 [Gene]
  • LOC111982890:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:11425327-11426526 [Gene]
  • LOC126861143:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:12087483-12088682 [Gene]
  • LOC126861147:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:13782751-13783950 [Gene]
  • LOC124421500:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:15467942-15469141 [Gene]
  • COPB1:COPI coat complex subunit beta 1 [Gene - OMIM - HGNC]
  • CTR9:CTR9 homolog, Paf1/RNA polymerase II complex component [Gene - OMIM - HGNC]
  • LOC111413037:GATA motif-containing MPRA enhancer 176/177 [Gene]
  • INSC:INSC spindle orientation adaptor protein [Gene - OMIM - HGNC]
  • IRAG1-AS1:IRAG1 antisense RNA 1 [Gene - HGNC]
  • LOC126861137:MED14-independent group 3 enhancer GRCh37_chr11:10065715-10066914 [Gene]
  • LOC126861138:MED14-independent group 3 enhancer GRCh37_chr11:10615146-10616345 [Gene]
  • LOC126861142:MED14-independent group 3 enhancer GRCh37_chr11:11738330-11739529 [Gene]
  • LOC126861144:MED14-independent group 3 enhancer GRCh37_chr11:12714955-12716154 [Gene]
  • LOC126861148:MED14-independent group 3 enhancer GRCh37_chr11:13944875-13946074 [Gene]
  • MICALCL:MICAL C-terminal like [Gene - OMIM - HGNC]
  • LOC129390258:MPRA-validated peak1195 silencer [Gene]
  • LOC129390259:MPRA-validated peak1197 silencer [Gene]
  • LOC129390260:MPRA-validated peak1207 silencer [Gene]
  • LOC129390261:MPRA-validated peak1210 silencer [Gene]
  • LOC129390262:MPRA-validated peak1212 silencer [Gene]
  • LOC129390263:MPRA-validated peak1213 silencer [Gene]
  • LOC129390264:MPRA-validated peak1214 silencer [Gene]
  • LOC129390265:MPRA-validated peak1218 silencer [Gene]
  • LOC129390266:MPRA-validated peak1219 silencer [Gene]
  • MTRNR2L8:MT-RNR2 like 8 [Gene - HGNC]
  • LOC132090833:Neanderthal introgressed variant-containing enhancer experimental_18862 [Gene]
  • LOC132089897:Neanderthal introgressed variant-containing enhancer experimental_18916 [Gene]
  • LOC132089898:Neanderthal introgressed variant-containing enhancer experimental_19011 [Gene]
  • LOC132089899:Neanderthal introgressed variant-containing enhancer experimental_19059 [Gene]
  • LOC124421486:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:10680716-10681915 [Gene]
  • LOC126861141:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:10920769-10921968 [Gene]
  • LOC126861145:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:13094694-13095893 [Gene]
  • LOC126861146:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:13282544-13283743 [Gene]
  • LOC106736470:PTH negative calcium response element (nCARE) region [Gene]
  • LOC107988023:PTH promoter region [Gene]
  • RRAS2:RAS related 2 [Gene - OMIM - HGNC]
  • RASSF10-DT:RASSF10 divergent transcript [Gene - HGNC]
  • RASSF10:Ras association domain family member 10 [Gene - OMIM - HGNC]
  • SBF2:SET binding factor 2 [Gene - OMIM - HGNC]
  • LOC108281125:SOX6 proximal promoter region [Gene]
  • SOX6:SRY-box transcription factor 6 [Gene - OMIM - HGNC]
  • LOC121832787:Sharpr-MPRA regulatory region 10887 [Gene]
  • LOC124421485:Sharpr-MPRA regulatory region 11145 [Gene]
  • LOC124421495:Sharpr-MPRA regulatory region 11610 [Gene]
  • LOC112042781:Sharpr-MPRA regulatory region 12121 [Gene]
  • LOC124421494:Sharpr-MPRA regulatory region 13244 [Gene]
  • LOC124421497:Sharpr-MPRA regulatory region 134 [Gene]
  • LOC124421491:Sharpr-MPRA regulatory region 14023 [Gene]
  • LOC124421490:Sharpr-MPRA regulatory region 15612/8581 [Gene]
  • LOC121392891:Sharpr-MPRA regulatory region 1666 [Gene]
  • LOC124421482:Sharpr-MPRA regulatory region 210 [Gene]
  • LOC124421498:Sharpr-MPRA regulatory region 2156 [Gene]
  • LOC124421496:Sharpr-MPRA regulatory region 3016 [Gene]
  • LOC112042782:Sharpr-MPRA regulatory region 4146 [Gene]
  • LOC124421487:Sharpr-MPRA regulatory region 5180 [Gene]
  • LOC124421493:Sharpr-MPRA regulatory region 5264 [Gene]
  • LOC124421483:Sharpr-MPRA regulatory region 6386 [Gene]
  • LOC124421488:Sharpr-MPRA regulatory region 6670 [Gene]
  • LOC124421499:Sharpr-MPRA regulatory region 7615 [Gene]
  • LOC124421484:Sharpr-MPRA regulatory region 7754 [Gene]
  • LOC112067712:Sharpr-MPRA regulatory region 800 [Gene]
  • LOC121832788:Sharpr-MPRA regulatory region 8560 [Gene]
  • LOC124421489:Sharpr-MPRA regulatory region 886 [Gene]
  • LOC124421492:Sharpr-MPRA regulatory region 9596 [Gene]
  • LOC121392890:Sharpr-MPRA regulatory regions 8950 and 14430 [Gene]
  • TEAD1:TEA domain transcription factor 1 [Gene - OMIM - HGNC]
  • LOC108254681:TEAD1 intron CAGE-defined low expression enhancer 1 [Gene]
  • LOC110121340:VISTA enhancer hs1301 [Gene]
  • LOC110121343:VISTA enhancer hs1314 [Gene]
  • LOC110121434:VISTA enhancer hs1720 [Gene]
  • LOC114827852:VISTA enhancer hs2289 [Gene]
  • LOC110120848:VISTA enhancer hs236 [Gene]
  • LOC110120922:VISTA enhancer hs692 [Gene]
  • LOC110120926:VISTA enhancer hs717 [Gene]
  • LOC110120947:VISTA enhancer hs883 [Gene]
  • ZBED5-AS1:ZBED5 antisense RNA 1 [Gene - HGNC]
  • AMPD3:adenosine monophosphate deaminase 3 [Gene - OMIM - HGNC]
  • ADM:adrenomedullin [Gene - OMIM - HGNC]
  • BMAL1:basic helix-loop-helix ARNT like 1 [Gene - OMIM - HGNC]
  • CALCA:calcitonin related polypeptide alpha [Gene - OMIM - HGNC]
  • CALCB:calcitonin related polypeptide beta [Gene - OMIM - HGNC]
  • CSNK2A3:casein kinase 2 alpha 3 [Gene - HGNC]
  • C11orf58:chromosome 11 open reading frame 58 [Gene - OMIM - HGNC]
  • CYP2R1:cytochrome P450 family 2 subfamily R member 1 [Gene - OMIM - HGNC]
  • DKK3:dickkopf WNT signaling pathway inhibitor 3 [Gene - OMIM - HGNC]
  • EIF4G2:eukaryotic translation initiation factor 4 gamma 2 [Gene - OMIM - HGNC]
  • FAR1:fatty acyl-CoA reductase 1 [Gene - OMIM - HGNC]
  • IRAG1:inositol 1,4,5-triphosphate receptor associated 1 [Gene - OMIM - HGNC]
  • LINC02545:long intergenic non-protein coding RNA 2545 [Gene - HGNC]
  • LINC02547:long intergenic non-protein coding RNA 2547 [Gene - HGNC]
  • LINC02548:long intergenic non-protein coding RNA 2548 [Gene - HGNC]
  • LINC02682:long intergenic non-protein coding RNA 2682 [Gene - HGNC]
  • LINC02683:long intergenic non-protein coding RNA 2683 [Gene - HGNC]
  • LINC02751:long intergenic non-protein coding RNA 2751 [Gene - HGNC]
  • LINC02752:long intergenic non-protein coding RNA 2752 [Gene - HGNC]
  • LINC02989:long intergenic non-protein coding RNA 2989 [Gene - HGNC]
  • LINC00958:long intergenic non-protein coding RNA 958 [Gene - OMIM - HGNC]
  • LYVE1:lymphatic vessel endothelial hyaluronan receptor 1 [Gene - OMIM - HGNC]
  • LOC128772342:melanoma risk locus-associated MPRA allelic enhancer 11:16086747 [Gene]
  • LOC128772343:melanoma risk locus-associated MPRA allelic enhancer 11:16133413 [Gene]
  • LOC128772344:melanoma risk locus-associated MPRA allelic enhancer 11:16199331 [Gene]
  • LOC128772345:melanoma risk locus-associated MPRA allelic enhancer 11:16200444 [Gene]
  • LOC128772346:melanoma risk locus-associated MPRA allelic enhancer 11:16210951 [Gene]
  • MIR4299:microRNA 4299 [Gene - HGNC]
  • MIR4485:microRNA 4485 [Gene - HGNC]
  • MIR6073:microRNA 6073 [Gene - HGNC]
  • MIR6124:microRNA 6124 [Gene - HGNC]
  • MIR8070:microRNA 8070 [Gene - HGNC]
  • MICAL2:microtubule associated monooxygenase, calponin and LIM domain containing 2 [Gene - OMIM - HGNC]
  • PTH:parathyroid hormone [Gene - OMIM - HGNC]
  • PARVA:parvin alpha [Gene - OMIM - HGNC]
  • PDE3B:phosphodiesterase 3B [Gene - OMIM - HGNC]
  • PLEKHA7:pleckstrin homology domain containing A7 [Gene - OMIM - HGNC]
  • GALNT18:polypeptide N-acetylgalactosaminyltransferase 18 [Gene - OMIM - HGNC]
  • PSMA1:proteasome 20S subunit alpha 1 [Gene - OMIM - HGNC]
  • RNF141:ring finger protein 141 [Gene - OMIM - HGNC]
  • SNORD97:small nucleolar RNA, C/D box 97 [Gene - HGNC]
  • SPON1:spondin 1 [Gene - OMIM - HGNC]
  • USP47:ubiquitin specific peptidase 47 [Gene - OMIM - HGNC]
  • CAND1.11:uncharacterized LOC100130460 [Gene]
  • LOC101928053:uncharacterized LOC101928053 [Gene]
  • ZBED5:zinc finger BED-type containing 5 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
11p15.4-15.2
Genomic location:
Preferred name:
GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1
HGVS:
  • NC_000011.10:g.(?_9989516)_(16825806_?)del
  • NC_000011.8:g.(?_9967639)_(16803929_?)del
  • NC_000011.9:g.(?_10011063)_(16847353_?)del
Links:
dbVar: nssv582152; dbVar: nsv534118
Observations:
1

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000176894ISCA site 8

See additional submitters

no assertion criteria provided
Pathogenic
(Jan 30, 2010) 		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 8, SCV000176894.3

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

Last Updated: Sep 8, 2024