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GRCh38/hg38 16q23.3(chr16:81949018-82802743)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 25, 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:
RCV000141862.7

Allele description [Variation Report for GRCh38/hg38 16q23.3(chr16:81949018-82802743)x3]

GRCh38/hg38 16q23.3(chr16:81949018-82802743)x3

Genes:
  • LOC130059548:ATAC-STARR-seq lymphoblastoid active region 11225 [Gene]
  • LOC130059549:ATAC-STARR-seq lymphoblastoid active region 11226 [Gene]
  • LOC130059547:ATAC-STARR-seq lymphoblastoid silent region 7764 [Gene]
  • LOC130059550:ATAC-STARR-seq lymphoblastoid silent region 7765 [Gene]
  • LOC126862419:BRD4-independent group 4 enhancer GRCh37_chr16:82732677-82733876 [Gene]
  • LOC126862417:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:82662659-82663858 [Gene]
  • HSD17B2-AS1:HSD17B2 antisense RNA 1 [Gene - HGNC]
  • MPHOSPH6:M-phase phosphoprotein 6 [Gene - OMIM - HGNC]
  • LOC126862416:MED14-independent group 3 enhancer GRCh37_chr16:82103975-82105174 [Gene]
  • LOC126862418:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:82687085-82688284 [Gene]
  • LOC125177362:Sharpr-MPRA regulatory region 6595 [Gene]
  • LOC112486214:Sharpr-MPRA regulatory region 8727 [Gene]
  • LOC110121468:VISTA enhancer hs1959 [Gene]
  • CDH13:cadherin 13 [Gene - OMIM - HGNC]
  • HSD17B2:hydroxysteroid 17-beta dehydrogenase 2 [Gene - OMIM - HGNC]
  • LOC128779116:melanoma risk locus-associated MPRA allelic enhancer 16:82156398 [Gene]
  • LOC128772415:melanoma risk locus-associated MPRA allelic enhancer 16:82167193 [Gene]
  • LOC128772416:melanoma risk locus-associated MPRA allelic enhancer 16:82185320 [Gene]
  • LOC128772417:melanoma risk locus-associated MPRA allelic enhancer 16:82194405 [Gene]
  • LOC128772418:melanoma risk locus-associated MPRA allelic enhancer 16:82196808 [Gene]
  • LOC128772419:melanoma risk locus-associated MPRA allelic enhancer 16:82199461 [Gene]
  • LOC128849171:melanoma risk locus-associated MPRA allelic enhancer 16:82199598 [Gene]
  • LOC128849173:melanoma risk locus-associated MPRA allelic enhancer 16:82203758 [Gene]
  • LOC128772420:melanoma risk locus-associated MPRA allelic enhancer 16:82215972 [Gene]
  • MIR8058:microRNA 8058 [Gene - HGNC]
  • PLCG2:phospholipase C gamma 2 [Gene - OMIM - HGNC]
  • SDR42E1:short chain dehydrogenase/reductase family 42E, member 1 [Gene - OMIM - HGNC]
  • LOC101928392:uncharacterized LOC101928392 [Gene]
  • LOC101928446:uncharacterized LOC101928446 [Gene]
Variant type:
copy number gain
Cytogenetic location:
16q23.3
Genomic location:
Preferred name:
GRCh38/hg38 16q23.3(chr16:81949018-82802743)x3
HGVS:
  • NC_000016.10:g.(?_81949018)_(82802743_?)dup
  • NC_000016.9:g.(?_81982623)_(82836348_?)dup
Links:
dbVar: nssv3397078; dbVar: nsv995489
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
SCV000182912ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Jun 25, 2013) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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, SCV000182912.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Sep 1, 2024