GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3 AND See cases

Clinical significance:conflicting data from submitters (Last evaluated: Oct 7, 2011)

Review status:(0/4) 0 stars out of maximum of 4 stars

conflicting data from submitters (no assertion criteria provided)

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000050375.7

Allele description [Variation Report for GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3]

GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3

Genes:
  • LOC106736480:15q13 proximal microdeletion recombination region [Gene]
  • LOC106736465:15q13.2 beta inversion distal 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]
  • ARHGAP11B-DT:ARHGAP11B divergent transcript [Gene - 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]
  • GOLGA8O:golgin A8 family member O [Gene - HGNC]
  • GOLGA8Q:golgin A8 family member Q [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]
  • LOC283710:uncharacterized LOC283710 [Gene]
Variant type:
copy number gain
Cytogenetic location:
15q13.2-13.3
Genomic location:
Preferred name:
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3
HGVS:
  • NC_000015.10:g.(?_30438310)_(32569425_?)dup
  • NC_000015.8:g.(?_28517805)_(30648918_?)dup
  • NC_000015.9:g.(?_30730513)_(32861626_?)dup
Links:
dbVar: nssv1415480; dbVar: nssv1495461; dbVar: nssv584422; dbVar: nsv498042
Observations:
3

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
SCV000174558ISCA site 1

See additional submitters

no assertion criteria providedconflicting data from submitters
(Oct 7, 2011)
paternal, 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, with clinical assertions as classified by the original submitter.

SCV000174558

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/].

SCV000174558

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not providednot providednot providednot providedclinical testing
humannot providedyes2not 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 1, SCV000174558.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2human1not providednot providedclinical testing PubMed (1)
3human1not providednot providedclinical testing PubMed (1)

Description

Pathogenic(1), Uncertain significance(2)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providedDiscovery1not providednot providednot provided
2not providedyesnot providednot providedDiscovery1not providednot providednot provided
3not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 19, 2021

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