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GRCh38/hg38 11p15.5(chr11:758848-1998025)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:
RCV000052645.5

Allele description [Variation Report for GRCh38/hg38 11p15.5(chr11:758848-1998025)x1]

GRCh38/hg38 11p15.5(chr11:758848-1998025)x1

Genes:
  • LOC130005089:ATAC-STARR-seq lymphoblastoid active region 4279 [Gene]
  • LOC130005090:ATAC-STARR-seq lymphoblastoid active region 4280 [Gene]
  • LOC130005091:ATAC-STARR-seq lymphoblastoid active region 4281 [Gene]
  • LOC130005093:ATAC-STARR-seq lymphoblastoid active region 4284 [Gene]
  • LOC130005094:ATAC-STARR-seq lymphoblastoid active region 4285 [Gene]
  • LOC130005095:ATAC-STARR-seq lymphoblastoid active region 4286 [Gene]
  • LOC130005098:ATAC-STARR-seq lymphoblastoid active region 4287 [Gene]
  • LOC130005111:ATAC-STARR-seq lymphoblastoid active region 4288 [Gene]
  • LOC130005117:ATAC-STARR-seq lymphoblastoid active region 4289 [Gene]
  • LOC130005125:ATAC-STARR-seq lymphoblastoid active region 4290 [Gene]
  • LOC130005126:ATAC-STARR-seq lymphoblastoid active region 4291 [Gene]
  • LOC130005127:ATAC-STARR-seq lymphoblastoid active region 4292 [Gene]
  • LOC130005128:ATAC-STARR-seq lymphoblastoid active region 4293 [Gene]
  • LOC130005129:ATAC-STARR-seq lymphoblastoid active region 4294 [Gene]
  • LOC130005131:ATAC-STARR-seq lymphoblastoid active region 4295 [Gene]
  • LOC130005084:ATAC-STARR-seq lymphoblastoid silent region 3026 [Gene]
  • LOC130005085:ATAC-STARR-seq lymphoblastoid silent region 3027 [Gene]
  • LOC130005086:ATAC-STARR-seq lymphoblastoid silent region 3028 [Gene]
  • LOC130005087:ATAC-STARR-seq lymphoblastoid silent region 3029 [Gene]
  • LOC130005088:ATAC-STARR-seq lymphoblastoid silent region 3032 [Gene]
  • LOC130005092:ATAC-STARR-seq lymphoblastoid silent region 3034 [Gene]
  • LOC130005096:ATAC-STARR-seq lymphoblastoid silent region 3035 [Gene]
  • LOC130005097:ATAC-STARR-seq lymphoblastoid silent region 3036 [Gene]
  • LOC130005099:ATAC-STARR-seq lymphoblastoid silent region 3038 [Gene]
  • LOC130005100:ATAC-STARR-seq lymphoblastoid silent region 3039 [Gene]
  • LOC130005101:ATAC-STARR-seq lymphoblastoid silent region 3040 [Gene]
  • LOC130005102:ATAC-STARR-seq lymphoblastoid silent region 3041 [Gene]
  • LOC130005103:ATAC-STARR-seq lymphoblastoid silent region 3042 [Gene]
  • LOC130005104:ATAC-STARR-seq lymphoblastoid silent region 3044 [Gene]
  • LOC130005105:ATAC-STARR-seq lymphoblastoid silent region 3045 [Gene]
  • LOC130005106:ATAC-STARR-seq lymphoblastoid silent region 3046 [Gene]
  • LOC130005107:ATAC-STARR-seq lymphoblastoid silent region 3047 [Gene]
  • LOC130005108:ATAC-STARR-seq lymphoblastoid silent region 3048 [Gene]
  • LOC130005109:ATAC-STARR-seq lymphoblastoid silent region 3049 [Gene]
  • LOC130005110:ATAC-STARR-seq lymphoblastoid silent region 3050 [Gene]
  • LOC130005112:ATAC-STARR-seq lymphoblastoid silent region 3052 [Gene]
  • LOC130005113:ATAC-STARR-seq lymphoblastoid silent region 3053 [Gene]
  • LOC130005114:ATAC-STARR-seq lymphoblastoid silent region 3054 [Gene]
  • LOC130005115:ATAC-STARR-seq lymphoblastoid silent region 3055 [Gene]
  • LOC130005116:ATAC-STARR-seq lymphoblastoid silent region 3056 [Gene]
  • LOC130005118:ATAC-STARR-seq lymphoblastoid silent region 3057 [Gene]
  • LOC130005119:ATAC-STARR-seq lymphoblastoid silent region 3058 [Gene]
  • LOC130005120:ATAC-STARR-seq lymphoblastoid silent region 3059 [Gene]
  • LOC130005121:ATAC-STARR-seq lymphoblastoid silent region 3060 [Gene]
  • LOC130005122:ATAC-STARR-seq lymphoblastoid silent region 3061 [Gene]
  • LOC130005123:ATAC-STARR-seq lymphoblastoid silent region 3062 [Gene]
  • LOC130005124:ATAC-STARR-seq lymphoblastoid silent region 3063 [Gene]
  • LOC130005130:ATAC-STARR-seq lymphoblastoid silent region 3064 [Gene]
  • BRSK2:BR serine/threonine kinase 2 [Gene - OMIM - HGNC]
  • LOC126861113:BRD4-independent group 4 enhancer GRCh37_chr11:1640412-1641611 [Gene]
  • CD151:CD151 molecule (Raph blood group) [Gene - OMIM - HGNC]
  • LOC126861112:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:1214179-1215378 [Gene]
  • LOC126861110:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:762588-763787 [Gene]
  • GATD1-DT:GATD1 divergent transcript [Gene - HGNC]
  • H19:H19 imprinted maternally expressed transcript [Gene - OMIM - HGNC]
  • HOTS:H19 opposite tumor suppressor [Gene]
  • LOC105274310:H19/IGF2 enhancer region [Gene]
  • KRTAP5-AS1:KRTAP5-1/KRTAP5-2 antisense RNA 1 [Gene - HGNC]
  • LOC126861114:MED14-independent group 3 enhancer GRCh37_chr11:1918050-1919249 [Gene]
  • MOB2:MOB kinase activator 2 [Gene - OMIM - HGNC]
  • LOC129390247:MPRA-validated peak1160 silencer [Gene]
  • MRPL23-AS1:MRPL23 antisense RNA 1 [Gene - HGNC]
  • MUC5B-AS1:MUC5B antisense RNA 1 [Gene - HGNC]
  • LOC126861111:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:1060443-1061642 [Gene]
  • PRADX:PRC2 and DDX5 associated lncRNA [Gene - HGNC]
  • POLR2L:RNA polymerase II, I and III subunit L [Gene - OMIM - HGNC]
  • LOC124418413:Sharpr-MPRA regulatory region 10567 [Gene]
  • LOC121392887:Sharpr-MPRA regulatory region 11801 [Gene]
  • LOC121392888:Sharpr-MPRA regulatory region 4982 [Gene]
  • LOC124418412:Sharpr-MPRA regulatory region 620 [Gene]
  • TOLLIP-DT:TOLLIP divergent transcript [Gene - HGNC]
  • LOC110121378:VISTA enhancer hs1488 [Gene]
  • AP2A2:adaptor related protein complex 2 subunit alpha 2 [Gene - OMIM - HGNC]
  • CRACR2B:calcium release activated channel regulator 2B [Gene - OMIM - HGNC]
  • CTSD:cathepsin D [Gene - OMIM - HGNC]
  • CEND1:cell cycle exit and neuronal differentiation 1 [Gene - OMIM - HGNC]
  • CHID1:chitinase domain containing 1 [Gene - OMIM - HGNC]
  • DUSP8:dual specificity phosphatase 8 [Gene - OMIM - HGNC]
  • FAM99A:family with sequence similarity 99 member A [Gene - HGNC]
  • FAM99B:family with sequence similarity 99 member B [Gene - HGNC]
  • GATD1:glutamine amidotransferase class 1 domain containing 1 [Gene - HGNC]
  • IFITM10:interferon induced transmembrane protein 10 [Gene - OMIM - HGNC]
  • KRTAP5-1:keratin associated protein 5-1 [Gene - OMIM - HGNC]
  • KRTAP5-2:keratin associated protein 5-2 [Gene - HGNC]
  • KRTAP5-3:keratin associated protein 5-3 [Gene - HGNC]
  • KRTAP5-4:keratin associated protein 5-4 [Gene - HGNC]
  • KRTAP5-5:keratin associated protein 5-5 [Gene - HGNC]
  • KRTAP5-6:keratin associated protein 5-6 [Gene - HGNC]
  • LINC01150:long intergenic non-protein coding RNA 1150 [Gene - HGNC]
  • LINC01219:long intergenic non-protein coding RNA 1219 [Gene - HGNC]
  • LINC02688:long intergenic non-protein coding RNA 2688 [Gene - HGNC]
  • LINC02708:long intergenic non-protein coding RNA 2708 [Gene - HGNC]
  • LSP1:lymphocyte specific protein 1 [Gene - OMIM - HGNC]
  • MIR4298:microRNA 4298 [Gene - HGNC]
  • MIR6744:microRNA 6744 [Gene - HGNC]
  • MIR675:microRNA 675 [Gene - OMIM - HGNC]
  • MIR7847:microRNA 7847 [Gene - HGNC]
  • MRPL23:mitochondrial ribosomal protein L23 [Gene - OMIM - HGNC]
  • MUC2:mucin 2, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • MUC5AC:mucin 5AC, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • MUC5B:mucin 5B, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • MUC6:mucin 6, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • PIDD1:p53-induced death domain protein 1 [Gene - OMIM - HGNC]
  • PNPLA2:patatin like phospholipase domain containing 2 [Gene - OMIM - HGNC]
  • PANO1:proapoptotic nucleolar protein 1 [Gene - OMIM - HGNC]
  • PRR33:proline rich 33 [Gene - HGNC]
  • RPLP2:ribosomal protein lateral stalk subunit P2 [Gene - OMIM - HGNC]
  • LOC111718490:skeletal muscle cis-regulatory module in IFITM10 intron [Gene]
  • SNORD131:small nucleolar RNA, C/D box 131 [Gene - HGNC]
  • SNORA52:small nucleolar RNA, H/ACA box 52 [Gene - HGNC]
  • SLC25A22:solute carrier family 25 member 22 [Gene - OMIM - HGNC]
  • SYT8:synaptotagmin 8 [Gene - OMIM - HGNC]
  • TSPAN4:tetraspanin 4 [Gene - OMIM - HGNC]
  • TOLLIP:toll interacting protein [Gene - OMIM - HGNC]
  • TALDO1:transaldolase 1 [Gene - OMIM - HGNC]
  • TNNI2:troponin I2, fast skeletal type [Gene - OMIM - HGNC]
  • TNNT3:troponin T3, fast skeletal type [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
GRCh38/hg38 11p15.5(chr11:758848-1998025)x1
HGVS:
  • NC_000011.10:g.(?_758848)_(1998025_?)del
  • NC_000011.8:g.(?_748848)_(1975831_?)del
  • NC_000011.9:g.(?_758848)_(2019255_?)del
Links:
dbVar: nssv577329; dbVar: nsv531360
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
SCV000079999ISCA site 14

See additional submitters

criteria provided, single submitter

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

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 14, SCV000079999.4

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

Last Updated: May 7, 2024