GRCh38/hg38 15q13.2-13.3(chr15:30109224-32606466)x1 AND See cases

Clinical significance:Pathogenic (Last evaluated: Aug 12, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000052426.5

Allele description [Variation Report for GRCh38/hg38 15q13.2-13.3(chr15:30109224-32606466)x1]

GRCh38/hg38 15q13.2-13.3(chr15:30109224-32606466)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]
  • 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:Kruppel like factor 13 [Gene - OMIM - HGNC]
  • OTUD7A:OTU deubiquitinase 7A [Gene - OMIM - HGNC]
  • ARHGAP11B:Rho GTPase activating protein 11B [Gene - OMIM - HGNC]
  • LOC112272582:Sharpr-MPRA regulatory region 5138 [Gene]
  • LOC110121498:VISTA enhancer hs2231 [Gene]
  • LOC100996413:WAS/WASL-interacting protein family member 3-like [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]
  • GOLGA8T:golgin A8 family member T [Gene - HGNC]
  • LINC02249:long intergenic non-protein coding RNA 2249 [Gene - HGNC]
  • LINC02256:long intergenic non-protein coding RNA 2256 [Gene - HGNC]
  • LINC02352:long intergenic non-protein coding RNA 2352 [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]
  • LOC101928042:uncharacterized LOC101928042 [Gene]
  • LOC102725021:uncharacterized LOC102725021 [Gene]
  • LOC283710:uncharacterized LOC283710 [Gene]
Variant type:
copy number loss
Cytogenetic location:
15q13.2-13.3
Genomic location:
Preferred name:
GRCh38/hg38 15q13.2-13.3(chr15:30109224-32606466)x1
HGVS:
  • NC_000015.10:g.(?_30109224)_(32606466_?)del
  • NC_000015.8:g.(?_28188719)_(30685959_?)del
  • NC_000015.9:g.(?_30401427)_(32898667_?)del
Links:
dbVar: nssv579722; dbVar: nssv579723; dbVar: nsv531135
Observations:
2

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000079778ISCA site 6

See additional submitters

criteria provided, single submitter
Pathogenic
(Aug 12, 2011)
not providedclinical testing

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

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations. Clinical assertions have been curated as described in Kaminsky et al. 2011.

SCV000079778

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes2not 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 6, SCV000079778.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided
2not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Aug 17, 2019

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