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GRCh38/hg38 16q23.1(chr16:75541502-79154140)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 30, 2009
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:
RCV000135449.6

Allele description [Variation Report for GRCh38/hg38 16q23.1(chr16:75541502-79154140)x1]

GRCh38/hg38 16q23.1(chr16:75541502-79154140)x1

Genes:
  • ADAMTS18:ADAM metallopeptidase with thrombospondin type 1 motif 18 [Gene - OMIM - HGNC]
  • 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]
  • LOC130059452:ATAC-STARR-seq lymphoblastoid active region 11147 [Gene]
  • LOC130059453:ATAC-STARR-seq lymphoblastoid active region 11148 [Gene]
  • LOC130059455:ATAC-STARR-seq lymphoblastoid active region 11151 [Gene]
  • LOC130059456:ATAC-STARR-seq lymphoblastoid active region 11152 [Gene]
  • LOC130059457:ATAC-STARR-seq lymphoblastoid active region 11153 [Gene]
  • LOC130059458:ATAC-STARR-seq lymphoblastoid active region 11154 [Gene]
  • LOC130059460:ATAC-STARR-seq lymphoblastoid active region 11155 [Gene]
  • LOC130059462:ATAC-STARR-seq lymphoblastoid active region 11156 [Gene]
  • LOC130059463:ATAC-STARR-seq lymphoblastoid active region 11157 [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]
  • LOC130059454:ATAC-STARR-seq lymphoblastoid silent region 7729 [Gene]
  • LOC130059459:ATAC-STARR-seq lymphoblastoid silent region 7735 [Gene]
  • LOC130059461:ATAC-STARR-seq lymphoblastoid silent region 7736 [Gene]
  • LOC126862408:BRD4-independent group 4 enhancer GRCh37_chr16:77341323-77342522 [Gene]
  • LOC126862412:BRD4-independent group 4 enhancer GRCh37_chr16:79009787-79010986 [Gene]
  • CLEC3A:C-type lectin domain family 3 member A [Gene - OMIM - HGNC]
  • LOC126862402:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75663368-75664567 [Gene]
  • LOC126862403:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75854062-75855261 [Gene]
  • LOC126862407:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:77322970-77324169 [Gene]
  • GABARAPL2:GABA type A receptor associated protein like 2 [Gene - OMIM - HGNC]
  • LOC126862404:MED14-independent group 3 enhancer GRCh37_chr16:76749983-76751182 [Gene]
  • LOC126862410:MED14-independent group 3 enhancer GRCh37_chr16:78025071-78026270 [Gene]
  • LOC126862411:MED14-independent group 3 enhancer GRCh37_chr16:78029289-78030488 [Gene]
  • MON1B:MON1 homolog B, secretory trafficking associated [Gene - OMIM - HGNC]
  • LOC129390811:MPRA-validated peak2646 silencer [Gene]
  • LOC132090402:Neanderthal introgressed variant-containing enhancer experimental_44671 [Gene]
  • LOC132090403:Neanderthal introgressed variant-containing enhancer experimental_44716 [Gene]
  • LOC132090404:Neanderthal introgressed variant-containing enhancer experimental_44798 [Gene]
  • LOC132090405:Neanderthal introgressed variant-containing enhancer experimental_44811 [Gene]
  • LOC132090406:Neanderthal introgressed variant-containing enhancer experimental_44839 [Gene]
  • LOC132090407:Neanderthal introgressed variant-containing enhancer experimental_44883 [Gene]
  • LOC132090408:Neanderthal introgressed variant-containing enhancer experimental_44931 [Gene]
  • LOC132090409:Neanderthal introgressed variant-containing enhancer experimental_44984 [Gene]
  • LOC132090410:Neanderthal introgressed variant-containing enhancer experimental_45056 [Gene]
  • LOC132090411:Neanderthal introgressed variant-containing enhancer experimental_45073 [Gene]
  • LOC132090412:Neanderthal introgressed variant-containing enhancer experimental_45133 [Gene]
  • LOC132090413:Neanderthal introgressed variant-containing enhancer experimental_45171 [Gene]
  • LOC132090414:Neanderthal introgressed variant-containing enhancer experimental_45200 [Gene]
  • LOC132090887:Neanderthal introgressed variant-containing enhancer experimental_45205 [Gene]
  • LOC132090415:Neanderthal introgressed variant-containing enhancer experimental_45289 [Gene]
  • LOC132090416:Neanderthal introgressed variant-containing enhancer experimental_45434 [Gene]
  • LOC132090417:Neanderthal introgressed variant-containing enhancer experimental_45464 [Gene]
  • LOC132090418:Neanderthal introgressed variant-containing enhancer experimental_45488 [Gene]
  • LOC132090419:Neanderthal introgressed variant-containing enhancer experimental_45524 [Gene]
  • LOC132090420:Neanderthal introgressed variant-containing enhancer experimental_45539 [Gene]
  • LOC132090421:Neanderthal introgressed variant-containing enhancer experimental_45548 [Gene]
  • LOC132090422:Neanderthal introgressed variant-containing enhancer experimental_45593 [Gene]
  • LOC132090423:Neanderthal introgressed variant-containing enhancer experimental_45596 [Gene]
  • LOC132090424:Neanderthal introgressed variant-containing enhancer experimental_45605 [Gene]
  • LOC132090425:Neanderthal introgressed variant-containing enhancer experimental_45663 [Gene]
  • LOC132090426:Neanderthal introgressed variant-containing enhancer experimental_45737 [Gene]
  • LOC132090888:Neanderthal introgressed variant-containing enhancer experimental_45804 [Gene]
  • LOC132090427:Neanderthal introgressed variant-containing enhancer experimental_45838 [Gene]
  • LOC132090428:Neanderthal introgressed variant-containing enhancer experimental_45974 [Gene]
  • LOC132090429:Neanderthal introgressed variant-containing enhancer experimental_45980 [Gene]
  • LOC132090430:Neanderthal introgressed variant-containing enhancer experimental_46047 [Gene]
  • LOC132090431:Neanderthal introgressed variant-containing enhancer experimental_46108 [Gene]
  • LOC132090432:Neanderthal introgressed variant-containing enhancer experimental_46172 [Gene]
  • LOC132090433:Neanderthal introgressed variant-containing enhancer experimental_46191 [Gene]
  • LOC132090434:Neanderthal introgressed variant-containing enhancer experimental_46196 [Gene]
  • LOC132090435:Neanderthal introgressed variant-containing enhancer experimental_46257 [Gene]
  • LOC126862405:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:76838358-76839557 [Gene]
  • LOC126862406:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:76980493-76981692 [Gene]
  • LOC126862409:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:77911218-77912417 [Gene]
  • LOC125177356:Sharpr-MPRA regulatory region 10194 [Gene]
  • LOC125177355:Sharpr-MPRA regulatory region 10407 [Gene]
  • LOC125177352:Sharpr-MPRA regulatory region 12601 [Gene]
  • LOC121587562:Sharpr-MPRA regulatory region 1447 [Gene]
  • LOC125177353:Sharpr-MPRA regulatory region 14871 [Gene]
  • LOC125177354:Sharpr-MPRA regulatory region 3262 [Gene]
  • LOC112486208:Sharpr-MPRA regulatory region 41 [Gene]
  • LOC112486209:Sharpr-MPRA regulatory region 4302 [Gene]
  • TERF2IP:TERF2 interacting protein [Gene - OMIM - HGNC]
  • LOC110120570:VISTA enhancer hs12 [Gene]
  • WWOX:WW domain containing oxidoreductase [Gene - OMIM - HGNC]
  • WWOX-AS1:WWOX antisense RNA 1 [Gene - HGNC]
  • ADAT1:adenosine deaminase tRNA specific 1 [Gene - OMIM - HGNC]
  • CNTNAP4:contactin associated protein family member 4 [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]
  • LINC02125:long intergenic non-protein coding RNA 2125 [Gene - HGNC]
  • LINC02131:long intergenic non-protein coding RNA 2131 [Gene - HGNC]
  • KARS1:lysyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • MIR4719:microRNA 4719 [Gene - HGNC]
  • NUDT7:nudix hydrolase 7 [Gene - OMIM - HGNC]
  • SYCE1L:synaptonemal complex central element protein 1 like [Gene - OMIM - HGNC]
  • TMEM231:transmembrane protein 231 [Gene - OMIM - HGNC]
  • LOC105371347:uncharacterized LOC105371347 [Gene]
  • VAT1L:vesicle amine transport 1 like [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
16q23.1
Genomic location:
Preferred name:
GRCh38/hg38 16q23.1(chr16:75541502-79154140)x1
HGVS:
  • NC_000016.10:g.(?_75541502)_(79154140_?)del
  • NC_000016.8:g.(?_74132901)_(77745538_?)del
  • NC_000016.9:g.(?_75575400)_(79188037_?)del
Links:
dbVar: nssv582300; dbVar: nsv529114
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
SCV000175157ISCA site 17

See additional submitters

no assertion criteria provided
Pathogenic
(Jul 30, 2009) 		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 17, SCV000175157.3

#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