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GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000053361.8

Allele description [Variation Report for GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1]

GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1

Genes:
  • LOC130059551:ATAC-STARR-seq lymphoblastoid active region 11230 [Gene]
  • LOC130059552:ATAC-STARR-seq lymphoblastoid active region 11231 [Gene]
  • LOC130059563:ATAC-STARR-seq lymphoblastoid active region 11232 [Gene]
  • LOC130059568:ATAC-STARR-seq lymphoblastoid active region 11234 [Gene]
  • LOC130059569:ATAC-STARR-seq lymphoblastoid active region 11235 [Gene]
  • LOC130059570:ATAC-STARR-seq lymphoblastoid active region 11236 [Gene]
  • LOC130059571:ATAC-STARR-seq lymphoblastoid active region 11237 [Gene]
  • LOC130059572:ATAC-STARR-seq lymphoblastoid active region 11238 [Gene]
  • LOC130059573:ATAC-STARR-seq lymphoblastoid active region 11239 [Gene]
  • LOC130059574:ATAC-STARR-seq lymphoblastoid active region 11240 [Gene]
  • LOC130059575:ATAC-STARR-seq lymphoblastoid active region 11241 [Gene]
  • LOC130059577:ATAC-STARR-seq lymphoblastoid active region 11242 [Gene]
  • LOC130059578:ATAC-STARR-seq lymphoblastoid active region 11243 [Gene]
  • LOC130059579:ATAC-STARR-seq lymphoblastoid active region 11244 [Gene]
  • LOC130059580:ATAC-STARR-seq lymphoblastoid active region 11245 [Gene]
  • LOC130059581:ATAC-STARR-seq lymphoblastoid active region 11248 [Gene]
  • LOC130059582:ATAC-STARR-seq lymphoblastoid active region 11249 [Gene]
  • LOC130059583:ATAC-STARR-seq lymphoblastoid active region 11250 [Gene]
  • LOC130059584:ATAC-STARR-seq lymphoblastoid active region 11251 [Gene]
  • LOC130059590:ATAC-STARR-seq lymphoblastoid active region 11252 [Gene]
  • LOC130059596:ATAC-STARR-seq lymphoblastoid active region 11253 [Gene]
  • LOC130059597:ATAC-STARR-seq lymphoblastoid active region 11254 [Gene]
  • LOC130059598:ATAC-STARR-seq lymphoblastoid active region 11255 [Gene]
  • LOC130059599:ATAC-STARR-seq lymphoblastoid active region 11256 [Gene]
  • LOC130059602:ATAC-STARR-seq lymphoblastoid active region 11257 [Gene]
  • LOC130059605:ATAC-STARR-seq lymphoblastoid active region 11258 [Gene]
  • LOC130059606:ATAC-STARR-seq lymphoblastoid active region 11259 [Gene]
  • LOC130059553:ATAC-STARR-seq lymphoblastoid silent region 7767 [Gene]
  • LOC130059554:ATAC-STARR-seq lymphoblastoid silent region 7769 [Gene]
  • LOC130059555:ATAC-STARR-seq lymphoblastoid silent region 7770 [Gene]
  • LOC130059556:ATAC-STARR-seq lymphoblastoid silent region 7771 [Gene]
  • LOC130059557:ATAC-STARR-seq lymphoblastoid silent region 7772 [Gene]
  • LOC130059558:ATAC-STARR-seq lymphoblastoid silent region 7773 [Gene]
  • LOC130059559:ATAC-STARR-seq lymphoblastoid silent region 7774 [Gene]
  • LOC130059560:ATAC-STARR-seq lymphoblastoid silent region 7775 [Gene]
  • LOC130059561:ATAC-STARR-seq lymphoblastoid silent region 7776 [Gene]
  • LOC130059562:ATAC-STARR-seq lymphoblastoid silent region 7777 [Gene]
  • LOC130059564:ATAC-STARR-seq lymphoblastoid silent region 7778 [Gene]
  • LOC130059565:ATAC-STARR-seq lymphoblastoid silent region 7779 [Gene]
  • LOC130059566:ATAC-STARR-seq lymphoblastoid silent region 7780 [Gene]
  • LOC130059567:ATAC-STARR-seq lymphoblastoid silent region 7783 [Gene]
  • LOC130059576:ATAC-STARR-seq lymphoblastoid silent region 7784 [Gene]
  • LOC130059585:ATAC-STARR-seq lymphoblastoid silent region 7785 [Gene]
  • LOC130059586:ATAC-STARR-seq lymphoblastoid silent region 7786 [Gene]
  • LOC130059587:ATAC-STARR-seq lymphoblastoid silent region 7787 [Gene]
  • LOC130059588:ATAC-STARR-seq lymphoblastoid silent region 7788 [Gene]
  • LOC130059589:ATAC-STARR-seq lymphoblastoid silent region 7789 [Gene]
  • LOC130059591:ATAC-STARR-seq lymphoblastoid silent region 7790 [Gene]
  • LOC130059592:ATAC-STARR-seq lymphoblastoid silent region 7791 [Gene]
  • LOC130059593:ATAC-STARR-seq lymphoblastoid silent region 7792 [Gene]
  • LOC130059594:ATAC-STARR-seq lymphoblastoid silent region 7793 [Gene]
  • LOC130059595:ATAC-STARR-seq lymphoblastoid silent region 7794 [Gene]
  • LOC130059600:ATAC-STARR-seq lymphoblastoid silent region 7795 [Gene]
  • LOC130059601:ATAC-STARR-seq lymphoblastoid silent region 7796 [Gene]
  • LOC130059603:ATAC-STARR-seq lymphoblastoid silent region 7797 [Gene]
  • LOC130059604:ATAC-STARR-seq lymphoblastoid silent region 7798 [Gene]
  • LOC130059607:ATAC-STARR-seq lymphoblastoid silent region 7799 [Gene]
  • ATP2C2-AS1:ATP2C2 antisense RNA 1 [Gene - HGNC]
  • ATP2C2:ATPase secretory pathway Ca2+ transporting 2 [Gene - OMIM - HGNC]
  • LOC126862421:BRD4-independent group 4 enhancer GRCh37_chr16:83850559-83851758 [Gene]
  • LOC126862425:BRD4-independent group 4 enhancer GRCh37_chr16:84340158-84341357 [Gene]
  • LOC126862428:BRD4-independent group 4 enhancer GRCh37_chr16:84512589-84513788 [Gene]
  • CDH13-AS1:CDH13 antisense RNA 1 [Gene - HGNC]
  • CDH13-AS2:CDH13 antisense RNA 2 [Gene - HGNC]
  • CEDORA:CDH13 antisense oligodendrocyte and neuron associated lncRNA [Gene - HGNC]
  • LOC126862422:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:83945234-83946433 [Gene]
  • LOC126862423:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:84125154-84126353 [Gene]
  • LOC126862424:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:84227912-84229111 [Gene]
  • LOC126862427:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:84494562-84495761 [Gene]
  • LOC126862429:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:84913207-84914406 [Gene]
  • LOC126862430:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:85009937-85011136 [Gene]
  • KIAA0513:KIAA0513 [Gene - OMIM - HGNC]
  • MBTPS1-DT:MBTPS1 divergent transcript [Gene - HGNC]
  • LOC126862426:MED14-independent group 3 enhancer GRCh37_chr16:84393612-84394811 [Gene]
  • LOC129390813:MPRA-validated peak2652 silencer [Gene]
  • MEAK7:MTOR associated protein, eak-7 homolog [Gene - OMIM - HGNC]
  • NECAB2:N-terminal EF-hand calcium binding protein 2 [Gene - OMIM - HGNC]
  • LOC132090436:Neanderthal introgressed variant-containing enhancer experimental_46306 [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]
  • LOC121847995:Sharpr-MPRA regulatory region 11774 [Gene]
  • LOC125177363:Sharpr-MPRA regulatory region 13657 [Gene]
  • LOC125177380:Sharpr-MPRA regulatory region 15308 [Gene]
  • LOC125177368:Sharpr-MPRA regulatory region 1784 [Gene]
  • LOC112486215:Sharpr-MPRA regulatory region 3417 [Gene]
  • LOC125177366:Sharpr-MPRA regulatory region 4329 [Gene]
  • LOC125177365:Sharpr-MPRA regulatory region 4738 [Gene]
  • LOC125177367:Sharpr-MPRA regulatory region 6565 [Gene]
  • TAF1C:TATA-box binding protein associated factor, RNA polymerase I subunit C [Gene - OMIM - HGNC]
  • WFDC1:WAP four-disulfide core domain 1 [Gene - OMIM - HGNC]
  • ADAD2:adenosine deaminase domain containing 2 [Gene - OMIM - HGNC]
  • CDH13:cadherin 13 [Gene - OMIM - HGNC]
  • COTL1:coactosin like F-actin binding protein 1 [Gene - OMIM - HGNC]
  • CRISPLD2:cysteine rich secretory protein LCCL domain containing 2 [Gene - OMIM - HGNC]
  • DNAAF1:dynein axonemal assembly factor 1 [Gene - OMIM - HGNC]
  • HSBP1:heat shock factor binding protein 1 [Gene - OMIM - HGNC]
  • HSDL1:hydroxysteroid dehydrogenase like 1 [Gene - OMIM - HGNC]
  • KLHL36:kelch like family member 36 [Gene - HGNC]
  • LINC02176:long intergenic non-protein coding RNA 2176 [Gene - HGNC]
  • MLYCD:malonyl-CoA decarboxylase [Gene - OMIM - HGNC]
  • MBTPS1:membrane bound transcription factor peptidase, site 1 [Gene - OMIM - HGNC]
  • MIR3182:microRNA 3182 [Gene - HGNC]
  • OSGIN1:oxidative stress induced growth inhibitor 1 [Gene - OMIM - HGNC]
  • KCNG4:potassium voltage-gated channel modifier subfamily G member 4 [Gene - OMIM - HGNC]
  • SLC38A8:solute carrier family 38 member 8 [Gene - OMIM - HGNC]
  • LOC654780:splicing factor proline/glutamine-rich [Gene]
  • USP10:ubiquitin specific peptidase 10 [Gene - OMIM - HGNC]
  • ZDHHC7:zinc finger DHHC-type palmitoyltransferase 7 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
16q23.3-24.1
Genomic location:
Preferred name:
GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1
HGVS:
  • NC_000016.10:g.(?_83016872)_(85087809_?)del
  • NC_000016.8:g.(?_81607978)_(83678916_?)del
  • NC_000016.9:g.(?_83050477)_(85121415_?)del
Links:
dbVar: nssv577571; dbVar: nsv532042
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
SCV000080719ISCA Site 6

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA Site 6, SCV000080719.5

#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