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GRCh38/hg38 16q23.1(chr16:75227456-75731127)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 9, 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:
RCV000143189.5

Allele description [Variation Report for GRCh38/hg38 16q23.1(chr16:75227456-75731127)x3]

GRCh38/hg38 16q23.1(chr16:75227456-75731127)x3

Genes:
  • LOC130059419:ATAC-STARR-seq lymphoblastoid active region 11126 [Gene]
  • LOC130059427:ATAC-STARR-seq lymphoblastoid active region 11127 [Gene]
  • LOC130059428:ATAC-STARR-seq lymphoblastoid active region 11128 [Gene]
  • LOC130059429:ATAC-STARR-seq lymphoblastoid active region 11129 [Gene]
  • LOC130059431:ATAC-STARR-seq lymphoblastoid active region 11131 [Gene]
  • LOC130059432:ATAC-STARR-seq lymphoblastoid active region 11132 [Gene]
  • LOC130059433:ATAC-STARR-seq lymphoblastoid active region 11133 [Gene]
  • LOC130059434:ATAC-STARR-seq lymphoblastoid active region 11134 [Gene]
  • LOC130059438:ATAC-STARR-seq lymphoblastoid active region 11135 [Gene]
  • LOC130059439:ATAC-STARR-seq lymphoblastoid active region 11136 [Gene]
  • LOC130059442:ATAC-STARR-seq lymphoblastoid active region 11137 [Gene]
  • LOC130059443:ATAC-STARR-seq lymphoblastoid active region 11138 [Gene]
  • LOC130059445:ATAC-STARR-seq lymphoblastoid active region 11139 [Gene]
  • LOC130059446:ATAC-STARR-seq lymphoblastoid active region 11140 [Gene]
  • LOC130059448:ATAC-STARR-seq lymphoblastoid active region 11141 [Gene]
  • LOC130059449:ATAC-STARR-seq lymphoblastoid active region 11142 [Gene]
  • LOC130059450:ATAC-STARR-seq lymphoblastoid active region 11144 [Gene]
  • LOC130059451:ATAC-STARR-seq lymphoblastoid active region 11146 [Gene]
  • LOC130059418:ATAC-STARR-seq lymphoblastoid silent region 7711 [Gene]
  • LOC130059420:ATAC-STARR-seq lymphoblastoid silent region 7712 [Gene]
  • LOC130059421:ATAC-STARR-seq lymphoblastoid silent region 7713 [Gene]
  • LOC130059422:ATAC-STARR-seq lymphoblastoid silent region 7714 [Gene]
  • LOC130059423:ATAC-STARR-seq lymphoblastoid silent region 7715 [Gene]
  • LOC130059424:ATAC-STARR-seq lymphoblastoid silent region 7716 [Gene]
  • LOC130059425:ATAC-STARR-seq lymphoblastoid silent region 7717 [Gene]
  • LOC130059426:ATAC-STARR-seq lymphoblastoid silent region 7718 [Gene]
  • LOC130059430:ATAC-STARR-seq lymphoblastoid silent region 7719 [Gene]
  • LOC130059435:ATAC-STARR-seq lymphoblastoid silent region 7721 [Gene]
  • LOC130059436:ATAC-STARR-seq lymphoblastoid silent region 7722 [Gene]
  • LOC130059437:ATAC-STARR-seq lymphoblastoid silent region 7723 [Gene]
  • LOC130059440:ATAC-STARR-seq lymphoblastoid silent region 7724 [Gene]
  • LOC130059441:ATAC-STARR-seq lymphoblastoid silent region 7725 [Gene]
  • LOC130059444:ATAC-STARR-seq lymphoblastoid silent region 7726 [Gene]
  • LOC130059447:ATAC-STARR-seq lymphoblastoid silent region 7727 [Gene]
  • BCAR1:BCAR1 scaffold protein, Cas family member [Gene - OMIM - HGNC]
  • LOC126862402:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75663368-75664567 [Gene]
  • LOC108254672:CFDP1 intron CAGE-defined high expression enhancer [Gene]
  • GABARAPL2:GABA type A receptor associated protein like 2 [Gene - OMIM - HGNC]
  • LOC126862401:MED14-independent group 3 enhancer GRCh37_chr16:75339050-75340249 [Gene]
  • LOC112486207:Sharpr-MPRA regulatory region 10346 [Gene]
  • LOC125177352:Sharpr-MPRA regulatory region 12601 [Gene]
  • LOC125177353:Sharpr-MPRA regulatory region 14871 [Gene]
  • TERF2IP:TERF2 interacting protein [Gene - OMIM - HGNC]
  • ADAT1:adenosine deaminase tRNA specific 1 [Gene - OMIM - HGNC]
  • CHST5:carbohydrate sulfotransferase 5 [Gene - OMIM - HGNC]
  • CHST6:carbohydrate sulfotransferase 6 [Gene - OMIM - HGNC]
  • CFDP1:craniofacial development protein 1 [Gene - OMIM - HGNC]
  • CPHXL2:cytoplasmic polyadenylated homeobox like 2 [Gene - HGNC]
  • CPHXL:cytoplasmic polyadenylated homeobox like [Gene - OMIM - HGNC]
  • DUXB:double homeobox B [Gene - OMIM - HGNC]
  • KARS1:lysyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • TMEM170A:transmembrane protein 170A [Gene - OMIM - HGNC]
  • TMEM231:transmembrane protein 231 [Gene - OMIM - HGNC]
  • LOC100506281:uncharacterized LOC100506281 [Gene]
Variant type:
copy number gain
Cytogenetic location:
16q23.1
Genomic location:
Preferred name:
GRCh38/hg38 16q23.1(chr16:75227456-75731127)x3
HGVS:
  • NC_000016.10:g.(?_75227456)_(75731127_?)dup
  • NC_000016.8:g.(?_73818855)_(74322526_?)dup
  • NC_000016.9:g.(?_75261354)_(75765025_?)dup
Links:
dbVar: nssv1610112; dbVar: nsv931939
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
SCV000181431ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Jan 9, 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, SCV000181431.4

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

Last Updated: May 7, 2024