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GRCh38/hg38 15q13.2-13.3(chr15:30629714-32275124)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 4, 2013
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000143262.5

Allele description [Variation Report for GRCh38/hg38 15q13.2-13.3(chr15:30629714-32275124)x1]

GRCh38/hg38 15q13.2-13.3(chr15:30629714-32275124)x1

Genes:
  • 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]
  • 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]
  • 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]
  • 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(chr15:30629714-32275124)x1
HGVS:
  • NC_000015.10:g.(?_30629714)_(32275124_?)del
  • NC_000015.8:g.(?_28709209)_(30354617_?)del
  • NC_000015.9:g.(?_30921917)_(32567325_?)del
Links:
dbVar: nssv1610373; dbVar: nsv932180
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
SCV000181663ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Feb 4, 2013) 		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

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, SCV000181663.4

#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