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GRCh38/hg38 16q23.3(chr16:82173150-83629769)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 19, 2010
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:
RCV000136141.7

Allele description [Variation Report for GRCh38/hg38 16q23.3(chr16:82173150-83629769)x3]

GRCh38/hg38 16q23.3(chr16:82173150-83629769)x3

Genes:
  • LOC130059551:ATAC-STARR-seq lymphoblastoid active region 11230 [Gene]
  • LOC126862419:BRD4-independent group 4 enhancer GRCh37_chr16:82732677-82733876 [Gene]
  • CDH13-AS1:CDH13 antisense RNA 1 [Gene - HGNC]
  • LOC126862417:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:82662659-82663858 [Gene]
  • LOC126862418:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:82687085-82688284 [Gene]
  • LOC126862420:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:83377629-83378828 [Gene]
  • LOC121847994:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:83566380-83567579 [Gene]
  • LOC125177362:Sharpr-MPRA regulatory region 6595 [Gene]
  • LOC110121468:VISTA enhancer hs1959 [Gene]
  • CDH13:cadherin 13 [Gene - OMIM - HGNC]
  • LOC128772420:melanoma risk locus-associated MPRA allelic enhancer 16:82215972 [Gene]
  • MIR3182:microRNA 3182 [Gene - HGNC]
  • MIR8058:microRNA 8058 [Gene - HGNC]
  • LOC101928392:uncharacterized LOC101928392 [Gene]
  • LOC101928417:uncharacterized LOC101928417 [Gene]
  • LOC101928446:uncharacterized LOC101928446 [Gene]
Variant type:
copy number gain
Cytogenetic location:
16q23.3
Genomic location:
Preferred name:
GRCh38/hg38 16q23.3(chr16:82173150-83629769)x3
HGVS:
  • NC_000016.10:g.(?_82173150)_(83629769_?)dup
  • NC_000016.8:g.(?_80764256)_(82220875_?)dup
  • NC_000016.9:g.(?_82206755)_(83663374_?)dup
Links:
dbVar: nssv707171; dbVar: nsv533452
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
SCV000176203ISCA site 8

See additional submitters

no assertion criteria provided
Uncertain significance
(Oct 19, 2010) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not 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 8, SCV000176203.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024