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GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)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:
RCV000050900.6

Allele description [Variation Report for GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x1]

GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x1

Genes:
  • LOC106736481:15q13 distal microdeletion recombination region [Gene]
  • LOC106736480:15q13 proximal microdeletion recombination region [Gene]
  • LOC106736465:15q13.2 beta inversion distal recombination region [Gene]
  • LOC106736464:15q13.2 beta inversion proximal recombination region [Gene]
  • LOC106736469:15q13.2-13.3 gamma inversion distal recombination region [Gene]
  • LOC106736468:15q13.2-13.3 gamma inversion proximal recombination region [Gene]
  • ARHGAP11A-DT:ARHGAP11A divergent transcript [Gene - HGNC]
  • ARHGAP11B-DT:ARHGAP11B divergent transcript [Gene - HGNC]
  • LOC130056726:ATAC-STARR-seq lymphoblastoid silent region 6267 [Gene]
  • LOC130056727:ATAC-STARR-seq lymphoblastoid silent region 6268 [Gene]
  • LOC126862088:BRD4-independent group 4 enhancer GRCh37_chr15:31318084-31319283 [Gene]
  • CHRFAM7A:CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion [Gene - OMIM - HGNC]
  • FAN1:FANCD2 and FANCI associated nuclease 1 [Gene - OMIM - HGNC]
  • KLF13:KLF transcription factor 13 [Gene - OMIM - HGNC]
  • LOC127829159:KLF13 promoter region [Gene]
  • LOC128899998:KLF13-II enhancer [Gene]
  • LOC128899999:KLF13-III enhancer [Gene]
  • LOC126862089:MED14-independent group 3 enhancer GRCh37_chr15:31442413-31443612 [Gene]
  • LOC129390679:MPRA-validated peak2284 silencer [Gene]
  • LOC129390680:MPRA-validated peak2285 silencer [Gene]
  • LOC129390681:MPRA-validated peak2289 silencer [Gene]
  • OTUD7A:OTU deubiquitinase 7A [Gene - OMIM - HGNC]
  • ARHGAP11B:Rho GTPase activating protein 11B [Gene - OMIM - HGNC]
  • LOC125078053:Sharpr-MPRA regulatory region 11410 [Gene]
  • LOC112272582:Sharpr-MPRA regulatory region 5138 [Gene]
  • LOC121847941:Sharpr-MPRA regulatory region 8183 [Gene]
  • LOC110121498:VISTA enhancer hs2231 [Gene]
  • CHRNA7:cholinergic receptor nicotinic alpha 7 subunit [Gene - OMIM - HGNC]
  • LOC106736477:distal CHRNA7 low-copy repeat recombination region [Gene]
  • GOLGA8H:golgin A8 family member H [Gene - HGNC]
  • GOLGA8K:golgin A8 family member K [Gene - HGNC]
  • GOLGA8N:golgin A8 family member N [Gene - HGNC]
  • GOLGA8O:golgin A8 family member O [Gene - HGNC]
  • GOLGA8Q:golgin A8 family member Q [Gene - HGNC]
  • GOLGA8R:golgin A8 family member R [Gene - HGNC]
  • LINC02256:long intergenic non-protein coding RNA 2256 [Gene - HGNC]
  • LINC02352:long intergenic non-protein coding RNA 2352 [Gene - HGNC]
  • LINC03034:long intergenic non-protein coding RNA 3034 [Gene - HGNC]
  • MIR211:microRNA 211 [Gene - OMIM - HGNC]
  • MTMR10:myotubularin related protein 10 [Gene - HGNC]
  • LOC106783506:nonconserved acetylation island sequence 49 enhancer [Gene]
  • LOC106736476:proximal CHRNA7 low-copy repeat recombination region [Gene]
  • TRPM1:transient receptor potential cation channel subfamily M member 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
15q13.2-13.3
Genomic location:
Preferred name:
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x1
HGVS:
  • NC_000015.10:g.(?_30361674)_(32607357_?)del
  • NC_000015.8:g.(?_28441169)_(30686850_?)del
  • NC_000015.9:g.(?_30653877)_(32899558_?)del
Links:
dbVar: nssv579724; dbVar: nsv1067608
Observations:
1

Condition(s)

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

Recent activity

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  • Frontotemporal Lobar Degeneration
    Frontotemporal Lobar Degeneration
    Heterogeneous group of neurodegenerative disorders characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit pr...<br/>Year introduced: 2010
    MeSH
  • Gerstmann-Straussler-Scheinker Disease
    Gerstmann-Straussler-Scheinker Disease
    An autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ATAXIA, spastic paraparesis, extrapyramidal signs, and DEMENTIA. Clinical...<br/>Year introduced: 2000(1991)
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000190829ISCA site 4

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 4, SCV000190829.2

#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