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GRCh38/hg38 13q33.2-34(chr13:106043720-110366226)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:
RCV000051451.6

Allele description [Variation Report for GRCh38/hg38 13q33.2-34(chr13:106043720-110366226)x1]

GRCh38/hg38 13q33.2-34(chr13:106043720-110366226)x1

Genes:
  • ARGLU1-DT:ARGLU1 divergent transcript [Gene - HGNC]
  • LOC130010088:ATAC-STARR-seq lymphoblastoid active region 7980 [Gene]
  • LOC130010089:ATAC-STARR-seq lymphoblastoid active region 7981 [Gene]
  • LOC130010093:ATAC-STARR-seq lymphoblastoid active region 7982 [Gene]
  • LOC130010094:ATAC-STARR-seq lymphoblastoid active region 7987 [Gene]
  • LOC130010096:ATAC-STARR-seq lymphoblastoid active region 7988 [Gene]
  • LOC130010097:ATAC-STARR-seq lymphoblastoid active region 7989 [Gene]
  • LOC130010101:ATAC-STARR-seq lymphoblastoid active region 7990 [Gene]
  • LOC130010102:ATAC-STARR-seq lymphoblastoid active region 7991 [Gene]
  • LOC130010090:ATAC-STARR-seq lymphoblastoid silent region 5489 [Gene]
  • LOC130010091:ATAC-STARR-seq lymphoblastoid silent region 5490 [Gene]
  • LOC130010092:ATAC-STARR-seq lymphoblastoid silent region 5491 [Gene]
  • LOC130010095:ATAC-STARR-seq lymphoblastoid silent region 5495 [Gene]
  • LOC130010098:ATAC-STARR-seq lymphoblastoid silent region 5497 [Gene]
  • LOC130010099:ATAC-STARR-seq lymphoblastoid silent region 5498 [Gene]
  • LOC130010100:ATAC-STARR-seq lymphoblastoid silent region 5499 [Gene]
  • LOC130010103:ATAC-STARR-seq lymphoblastoid silent region 5500 [Gene]
  • LOC130010104:ATAC-STARR-seq lymphoblastoid silent region 5501 [Gene]
  • LOC126861843:BRD4-independent group 4 enhancer GRCh37_chr13:109643265-109644464 [Gene]
  • LOC126861847:BRD4-independent group 4 enhancer GRCh37_chr13:110001130-110002329 [Gene]
  • LOC126861849:BRD4-independent group 4 enhancer GRCh37_chr13:110317890-110319089 [Gene]
  • LOC126861850:BRD4-independent group 4 enhancer GRCh37_chr13:110492397-110493596 [Gene]
  • LOC126861851:BRD4-independent group 4 enhancer GRCh37_chr13:110509939-110511138 [Gene]
  • LOC126861852:BRD4-independent group 4 enhancer GRCh37_chr13:110556058-110557257 [Gene]
  • LOC126861856:BRD4-independent group 4 enhancer GRCh37_chr13:110846747-110847946 [Gene]
  • LOC126861857:BRD4-independent group 4 enhancer GRCh37_chr13:110971991-110973190 [Gene]
  • LOC126861841:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:107145476-107146675 [Gene]
  • LOC126861842:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:107911110-107912309 [Gene]
  • LOC126861848:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:110165798-110166997 [Gene]
  • LOC126861853:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:110664005-110665204 [Gene]
  • LOC126861854:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:110669511-110670710 [Gene]
  • LIG4:DNA ligase 4 [Gene - OMIM - HGNC]
  • LOC126861839:MED14-independent group 3 enhancer GRCh37_chr13:107028450-107029649 [Gene]
  • LOC126861840:MED14-independent group 3 enhancer GRCh37_chr13:107131600-107132799 [Gene]
  • LOC126861844:MED14-independent group 3 enhancer GRCh37_chr13:109752798-109753997 [Gene]
  • LOC126861846:MED14-independent group 3 enhancer GRCh37_chr13:109863465-109864664 [Gene]
  • LOC126861855:MED14-independent group 3 enhancer GRCh37_chr13:110774733-110775932 [Gene]
  • MYO16-AS1:MYO16 antisense RNA 1 [Gene - HGNC]
  • MYO16-AS2:MYO16 antisense RNA 2 [Gene - HGNC]
  • NALF1:NALCN channel auxiliary factor 1 [Gene - OMIM - HGNC]
  • NALF1-IT1:NALF1 intronic transcript 1 [Gene - HGNC]
  • LOC132090156:Neanderthal introgressed variant-containing enhancer experimental_31732 [Gene]
  • LOC132090157:Neanderthal introgressed variant-containing enhancer experimental_31763 [Gene]
  • LOC132090158:Neanderthal introgressed variant-containing enhancer experimental_31780 [Gene]
  • LOC132090159:Neanderthal introgressed variant-containing enhancer experimental_31790 [Gene]
  • LOC132090160:Neanderthal introgressed variant-containing enhancer experimental_31927 [Gene]
  • LOC132090161:Neanderthal introgressed variant-containing enhancer experimental_31956 [Gene]
  • LOC132090162:Neanderthal introgressed variant-containing enhancer experimental_32038 [Gene]
  • LOC132090163:Neanderthal introgressed variant-containing enhancer experimental_32053 [Gene]
  • LOC132090164:Neanderthal introgressed variant-containing enhancer experimental_32153 [Gene]
  • LOC132090165:Neanderthal introgressed variant-containing enhancer experimental_32158 [Gene]
  • LOC132090166:Neanderthal introgressed variant-containing enhancer experimental_32209 [Gene]
  • LOC132090167:Neanderthal introgressed variant-containing enhancer experimental_32236 [Gene]
  • LOC132090867:Neanderthal introgressed variant-containing enhancer experimental_32244 [Gene]
  • LOC132090168:Neanderthal introgressed variant-containing enhancer experimental_32288 [Gene]
  • LOC132090169:Neanderthal introgressed variant-containing enhancer experimental_32298 [Gene]
  • LOC132090170:Neanderthal introgressed variant-containing enhancer experimental_32357 [Gene]
  • LOC132090171:Neanderthal introgressed variant-containing enhancer experimental_32390 [Gene]
  • LOC132090172:Neanderthal introgressed variant-containing enhancer experimental_32398 [Gene]
  • LOC132090173:Neanderthal introgressed variant-containing enhancer experimental_32415 [Gene]
  • LOC124946334:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:107124121-107125320 [Gene]
  • LOC126861845:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:109807999-109809198 [Gene]
  • LOC112163643:Sharpr-MPRA regulatory region 11013 [Gene]
  • LOC124946338:Sharpr-MPRA regulatory region 13714 [Gene]
  • LOC112163640:Sharpr-MPRA regulatory region 13792 [Gene]
  • LOC124946337:Sharpr-MPRA regulatory region 14817 [Gene]
  • LOC121468007:Sharpr-MPRA regulatory region 15042 [Gene]
  • LOC124946333:Sharpr-MPRA regulatory region 6229 [Gene]
  • LOC124946336:Sharpr-MPRA regulatory region 7214 [Gene]
  • TNFSF13B:TNF superfamily member 13b [Gene - OMIM - HGNC]
  • ABHD13:abhydrolase domain containing 13 [Gene - HGNC]
  • ARGLU1:arginine and glutamate rich 1 [Gene - OMIM - HGNC]
  • COL4A1:collagen type IV alpha 1 chain [Gene - OMIM - HGNC]
  • COL4A2:collagen type IV alpha 2 chain [Gene - OMIM - HGNC]
  • EFNB2:ephrin B2 [Gene - OMIM - HGNC]
  • LOC107992391:heart enhancer 14 [Gene]
  • IRS2:insulin receptor substrate 2 [Gene - OMIM - HGNC]
  • LINC03032:long intergenic non-protein coding RNA 3032 [Gene - HGNC]
  • LINC03061:long intergenic non-protein coding RNA 3061 [Gene - HGNC]
  • LINC03082:long intergenic non-protein coding RNA 3082 [Gene - HGNC]
  • LINC00370:long intergenic non-protein coding RNA 370 [Gene - HGNC]
  • LINC00396:long intergenic non-protein coding RNA 396 [Gene - HGNC]
  • LINC00399:long intergenic non-protein coding RNA 399 [Gene - HGNC]
  • LINC00443:long intergenic non-protein coding RNA 443 [Gene - HGNC]
  • LINC00460:long intergenic non-protein coding RNA 460 [Gene - HGNC]
  • LINC00676:long intergenic non-protein coding RNA 676 [Gene - HGNC]
  • MIR1267:microRNA 1267 [Gene - HGNC]
  • MIR8073:microRNA 8073 [Gene - HGNC]
  • MYO16:myosin XVI [Gene - OMIM - HGNC]
  • SNORD31B:small nucleolar RNA, C/D box 31B [Gene - HGNC]
  • LOC105370349:uncharacterized LOC105370349 [Gene]
  • LOC130494219:uncharacterized LOC130494219 [Gene]
Variant type:
copy number loss
Cytogenetic location:
13q33.2-34
Genomic location:
Preferred name:
GRCh38/hg38 13q33.2-34(chr13:106043720-110366226)x1
HGVS:
  • NC_000013.11:g.(?_106043720)_(110366226_?)del
  • NC_000013.10:g.(?_106696069)_(111018573_?)del
  • NC_000013.9:g.(?_105494070)_(109816574_?)del
Links:
dbVar: nssv577443; dbVar: nsv529973
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
SCV000078799ISCA site 17

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 17, SCV000078799.4

#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