GRCh38/hg38 15q24.3(chr15:77193423-77828917)x3 AND See cases

Germline classification:
Likely 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:
RCV000138994.5

Allele description [Variation Report for GRCh38/hg38 15q24.3(chr15:77193423-77828917)x3]

GRCh38/hg38 15q24.3(chr15:77193423-77828917)x3

Genes:
  • LOC130057663:ATAC-STARR-seq lymphoblastoid active region 9894 [Gene]
  • LOC130057664:ATAC-STARR-seq lymphoblastoid active region 9895 [Gene]
  • LOC130057665:ATAC-STARR-seq lymphoblastoid active region 9896 [Gene]
  • LOC130057666:ATAC-STARR-seq lymphoblastoid active region 9897 [Gene]
  • LOC130057660:ATAC-STARR-seq lymphoblastoid silent region 6697 [Gene]
  • LOC130057661:ATAC-STARR-seq lymphoblastoid silent region 6698 [Gene]
  • LOC130057662:ATAC-STARR-seq lymphoblastoid silent region 6699 [Gene]
  • LINGO1-AS1:LINGO1 antisense RNA 1 [Gene - HGNC]
  • LINGO1-AS2:LINGO1 antisense RNA 2 [Gene - HGNC]
  • LOC129390723:MPRA-validated peak2392 silencer [Gene]
  • LOC129390724:MPRA-validated peak2394 silencer [Gene]
  • LOC121530595:Sharpr-MPRA regulatory region 2172 [Gene]
  • LOC121530596:Sharpr-MPRA regulatory region 5143 [Gene]
  • LOC112272620:Sharpr-MPRA regulatory region 8640 [Gene]
  • HMG20A:high mobility group 20A [Gene - OMIM - HGNC]
  • LINGO1:leucine rich repeat and Ig domain containing 1 [Gene - OMIM - HGNC]
  • LINC00597:long intergenic non-protein coding RNA 597 [Gene - HGNC]
  • PEAK1:pseudopodium enriched atypical kinase 1 [Gene - OMIM - HGNC]
  • LOC101929457:uncharacterized LOC101929457 [Gene]
Variant type:
copy number gain
Cytogenetic location:
15q24.3
Genomic location:
Preferred name:
GRCh38/hg38 15q24.3(chr15:77193423-77828917)x3
HGVS:
  • NC_000015.10:g.(?_77193423)_(77828917_?)dup
  • NC_000015.8:g.(?_75272820)_(75908314_?)dup
  • NC_000015.9:g.(?_77485765)_(78121259_?)dup
Links:
dbVar: nssv1603071; dbVar: nsv916323
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
SCV000179455ISCA site 4

See additional submitters

no assertion criteria provided
Likely 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, SCV000179455.3

#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