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GRCh38/hg38 15q11.1-11.2(chr15:20217862-22308242)x3 AND See cases

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 21, 2012
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:
RCV000142972.5

Allele description [Variation Report for GRCh38/hg38 15q11.1-11.2(chr15:20217862-22308242)x3]

GRCh38/hg38 15q11.1-11.2(chr15:20217862-22308242)x3

Genes:
  • LOC130056704:ATAC-STARR-seq lymphoblastoid active region 9153 [Gene]
  • LOC130056705:ATAC-STARR-seq lymphoblastoid silent region 6255 [Gene]
  • LOC130056706:ATAC-STARR-seq lymphoblastoid silent region 6256 [Gene]
  • LOC126088093:BRD4-independent group 4 enhancer GRCh37_chr15:22382101-22383300 [Gene]
  • OR4M2-OT1:OR4M2 overlapping transcript 1 [Gene - HGNC]
  • POTEB2:POTE ankyrin domain family member B2 [Gene - HGNC]
  • POTEB3:POTE ankyrin domain family member B3 [Gene - HGNC]
  • POTEB:POTE ankyrin domain family member B [Gene - OMIM - HGNC]
  • FAM30C:family with sequence similarity 30 member C [Gene - HGNC]
  • GOLGA6L6:golgin A6 family like 6 [Gene - HGNC]
  • LINC01193:long intergenic non-protein coding RNA 1193 [Gene - HGNC]
  • LINC02203:long intergenic non-protein coding RNA 2203 [Gene - HGNC]
  • MIR1268A:microRNA 1268a [Gene - HGNC]
  • MIR3118-2:microRNA 3118-2 [Gene - HGNC]
  • MIR3118-3:microRNA 3118-3 [Gene - HGNC]
  • MIR3118-4:microRNA 3118-4 [Gene - HGNC]
  • MIR5701-1:microRNA 5701-1 [Gene - HGNC]
  • MIR5701-2:microRNA 5701-2 [Gene - HGNC]
  • MIR5701-3:microRNA 5701-3 [Gene - HGNC]
  • OR4M2:olfactory receptor family 4 subfamily M member 2 [Gene - HGNC]
  • OR4M2B:olfactory receptor family 4 subfamily M member 2B [Gene - HGNC]
  • OR4N4:olfactory receptor family 4 subfamily N member 4 [Gene - HGNC]
  • OR4N4C:olfactory receptor family 4 subfamily N member 4C [Gene - HGNC]
  • LOC102724971:putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 [Gene]
  • LOC107983983:putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8 [Gene]
Variant type:
copy number gain
Cytogenetic location:
15q11.1-11.2
Genomic location:
Preferred name:
GRCh38/hg38 15q11.1-11.2(chr15:20217862-22308242)x3
HGVS:
  • NC_000015.10:g.(?_20217862)_(22308242_?)dup
  • NC_000015.8:g.(?_18683129)_(20203485_?)dup
  • NC_000015.9:g.(?_20423115)_(22652121_?)dup
Links:
dbVar: nssv1603246; dbVar: nsv916566
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
SCV000179678ISCA site 4

See additional submitters

no assertion criteria provided
Benign
(Sep 21, 2012) 		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 4, SCV000179678.3

#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