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GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)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:
RCV000053381.4

Allele description [Variation Report for GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1]

GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1

Genes:
  • LOC130059741:ATAC-STARR-seq lymphoblastoid active region 11361 [Gene]
  • LOC130059743:ATAC-STARR-seq lymphoblastoid active region 11364 [Gene]
  • LOC130059744:ATAC-STARR-seq lymphoblastoid active region 11365 [Gene]
  • LOC130059748:ATAC-STARR-seq lymphoblastoid active region 11366 [Gene]
  • LOC130059749:ATAC-STARR-seq lymphoblastoid active region 11367 [Gene]
  • LOC130059750:ATAC-STARR-seq lymphoblastoid active region 11368 [Gene]
  • LOC130059753:ATAC-STARR-seq lymphoblastoid active region 11369 [Gene]
  • LOC130059754:ATAC-STARR-seq lymphoblastoid active region 11370 [Gene]
  • LOC130059755:ATAC-STARR-seq lymphoblastoid active region 11371 [Gene]
  • LOC130059756:ATAC-STARR-seq lymphoblastoid active region 11372 [Gene]
  • LOC130059763:ATAC-STARR-seq lymphoblastoid active region 11373 [Gene]
  • LOC130059764:ATAC-STARR-seq lymphoblastoid active region 11374 [Gene]
  • LOC130059766:ATAC-STARR-seq lymphoblastoid active region 11375 [Gene]
  • LOC130059767:ATAC-STARR-seq lymphoblastoid active region 11376 [Gene]
  • LOC130059768:ATAC-STARR-seq lymphoblastoid active region 11377 [Gene]
  • LOC130059774:ATAC-STARR-seq lymphoblastoid active region 11378 [Gene]
  • LOC130059776:ATAC-STARR-seq lymphoblastoid active region 11379 [Gene]
  • LOC130059777:ATAC-STARR-seq lymphoblastoid active region 11380 [Gene]
  • LOC130059778:ATAC-STARR-seq lymphoblastoid active region 11381 [Gene]
  • LOC130059779:ATAC-STARR-seq lymphoblastoid active region 11382 [Gene]
  • LOC130059780:ATAC-STARR-seq lymphoblastoid active region 11384 [Gene]
  • LOC130059781:ATAC-STARR-seq lymphoblastoid active region 11386 [Gene]
  • LOC130059782:ATAC-STARR-seq lymphoblastoid active region 11387 [Gene]
  • LOC130059783:ATAC-STARR-seq lymphoblastoid active region 11388 [Gene]
  • LOC130059785:ATAC-STARR-seq lymphoblastoid active region 11389 [Gene]
  • LOC130059786:ATAC-STARR-seq lymphoblastoid active region 11390 [Gene]
  • LOC130059787:ATAC-STARR-seq lymphoblastoid active region 11391 [Gene]
  • LOC130059788:ATAC-STARR-seq lymphoblastoid active region 11392 [Gene]
  • LOC130059790:ATAC-STARR-seq lymphoblastoid active region 11393 [Gene]
  • LOC130059791:ATAC-STARR-seq lymphoblastoid active region 11394 [Gene]
  • LOC130059793:ATAC-STARR-seq lymphoblastoid active region 11396 [Gene]
  • LOC130059796:ATAC-STARR-seq lymphoblastoid active region 11397 [Gene]
  • LOC130059801:ATAC-STARR-seq lymphoblastoid active region 11403 [Gene]
  • LOC130059802:ATAC-STARR-seq lymphoblastoid active region 11404 [Gene]
  • LOC130059803:ATAC-STARR-seq lymphoblastoid active region 11406 [Gene]
  • LOC130059804:ATAC-STARR-seq lymphoblastoid active region 11407 [Gene]
  • LOC130059805:ATAC-STARR-seq lymphoblastoid active region 11408 [Gene]
  • LOC130059807:ATAC-STARR-seq lymphoblastoid active region 11409 [Gene]
  • LOC130059808:ATAC-STARR-seq lymphoblastoid active region 11410 [Gene]
  • LOC130059740:ATAC-STARR-seq lymphoblastoid silent region 7865 [Gene]
  • LOC130059742:ATAC-STARR-seq lymphoblastoid silent region 7866 [Gene]
  • LOC130059745:ATAC-STARR-seq lymphoblastoid silent region 7867 [Gene]
  • LOC130059746:ATAC-STARR-seq lymphoblastoid silent region 7868 [Gene]
  • LOC130059747:ATAC-STARR-seq lymphoblastoid silent region 7869 [Gene]
  • LOC130059751:ATAC-STARR-seq lymphoblastoid silent region 7872 [Gene]
  • LOC130059752:ATAC-STARR-seq lymphoblastoid silent region 7873 [Gene]
  • LOC130059757:ATAC-STARR-seq lymphoblastoid silent region 7874 [Gene]
  • LOC130059758:ATAC-STARR-seq lymphoblastoid silent region 7876 [Gene]
  • LOC130059759:ATAC-STARR-seq lymphoblastoid silent region 7878 [Gene]
  • LOC130059760:ATAC-STARR-seq lymphoblastoid silent region 7879 [Gene]
  • LOC130059761:ATAC-STARR-seq lymphoblastoid silent region 7882 [Gene]
  • LOC130059762:ATAC-STARR-seq lymphoblastoid silent region 7883 [Gene]
  • LOC130059765:ATAC-STARR-seq lymphoblastoid silent region 7884 [Gene]
  • LOC130059769:ATAC-STARR-seq lymphoblastoid silent region 7885 [Gene]
  • LOC130059770:ATAC-STARR-seq lymphoblastoid silent region 7886 [Gene]
  • LOC130059771:ATAC-STARR-seq lymphoblastoid silent region 7887 [Gene]
  • LOC130059772:ATAC-STARR-seq lymphoblastoid silent region 7888 [Gene]
  • LOC130059773:ATAC-STARR-seq lymphoblastoid silent region 7889 [Gene]
  • LOC130059775:ATAC-STARR-seq lymphoblastoid silent region 7890 [Gene]
  • LOC130059784:ATAC-STARR-seq lymphoblastoid silent region 7891 [Gene]
  • LOC130059789:ATAC-STARR-seq lymphoblastoid silent region 7892 [Gene]
  • LOC130059792:ATAC-STARR-seq lymphoblastoid silent region 7893 [Gene]
  • LOC130059794:ATAC-STARR-seq lymphoblastoid silent region 7894 [Gene]
  • LOC130059795:ATAC-STARR-seq lymphoblastoid silent region 7895 [Gene]
  • LOC130059797:ATAC-STARR-seq lymphoblastoid silent region 7896 [Gene]
  • LOC130059798:ATAC-STARR-seq lymphoblastoid silent region 7897 [Gene]
  • LOC130059799:ATAC-STARR-seq lymphoblastoid silent region 7898 [Gene]
  • LOC130059800:ATAC-STARR-seq lymphoblastoid silent region 7899 [Gene]
  • LOC130059806:ATAC-STARR-seq lymphoblastoid silent region 7900 [Gene]
  • LOC130059809:ATAC-STARR-seq lymphoblastoid silent region 7901 [Gene]
  • LOC130059810:ATAC-STARR-seq lymphoblastoid silent region 7902 [Gene]
  • LOC126862449:BRD4-independent group 4 enhancer GRCh37_chr16:89392122-89393321 [Gene]
  • LOC126862450:BRD4-independent group 4 enhancer GRCh37_chr16:89427458-89428657 [Gene]
  • CBFA2T3:CBFA2/RUNX1 partner transcriptional co-repressor 3 [Gene - OMIM - HGNC]
  • LOC126862447:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:88884193-88885392 [Gene]
  • LOC126862448:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:89389210-89390409 [Gene]
  • LOC111413011:GATA motif-containing MPRA enhancer 137 [Gene]
  • HSALR1:HSP90AB1 associated lncRNA 1 [Gene - HGNC]
  • LOC132090440:Neanderthal introgressed variant-containing enhancer experimental_46374 [Gene]
  • LOC132090441:Neanderthal introgressed variant-containing enhancer experimental_46375 [Gene]
  • LOC132090442:Neanderthal introgressed variant-containing enhancer experimental_46429 [Gene]
  • LOC125177393:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:89180375-89181574 [Gene]
  • PABPN1L:PABPN1 like, cytoplasmic [Gene - HGNC]
  • SNAI3-AS1:SNAI3 antisense RNA 1 [Gene - HGNC]
  • LOC121847999:Sharpr-MPRA regulatory region 10451 [Gene]
  • LOC121587567:Sharpr-MPRA regulatory region 10518 [Gene]
  • LOC125177394:Sharpr-MPRA regulatory region 11767 [Gene]
  • LOC125177395:Sharpr-MPRA regulatory region 2584 [Gene]
  • LOC121848000:Sharpr-MPRA regulatory region 4154 [Gene]
  • LOC110121450:VISTA enhancer hs1854 [Gene]
  • ZNF778-DT:ZNF778 divergent transcript [Gene - HGNC]
  • ACSF3:acyl-CoA synthetase family member 3 [Gene - OMIM - HGNC]
  • APRT:adenine phosphoribosyltransferase [Gene - OMIM - HGNC]
  • ANKRD11:ankyrin repeat domain containing 11 [Gene - OMIM - HGNC]
  • CDH15:cadherin 15 [Gene - OMIM - HGNC]
  • CDT1:chromatin licensing and DNA replication factor 1 [Gene - OMIM - HGNC]
  • CTU2:cytosolic thiouridylase subunit 2 [Gene - OMIM - HGNC]
  • GALNS:galactosamine (N-acetyl)-6-sulfatase [Gene - OMIM - HGNC]
  • LINC02138:long intergenic non-protein coding RNA 2138 [Gene - HGNC]
  • LINC00304:long intergenic non-protein coding RNA 304 [Gene - HGNC]
  • MVD:mevalonate diphosphate decarboxylase [Gene - OMIM - HGNC]
  • MIR4722:microRNA 4722 [Gene - HGNC]
  • PIEZO1:piezo type mechanosensitive ion channel component 1 [Gene - OMIM - HGNC]
  • RNF166:ring finger protein 166 [Gene - OMIM - HGNC]
  • SNAI3:snail family transcriptional repressor 3 [Gene - OMIM - HGNC]
  • SLC22A31:solute carrier family 22 member 31 [Gene - HGNC]
  • TRAPPC2L:trafficking protein particle complex subunit 2L [Gene - OMIM - HGNC]
  • LOC100129697:uncharacterized LOC100129697 [Gene]
  • LOC100287036:uncharacterized LOC100287036 [Gene]
  • LOC101927793:uncharacterized LOC101927793 [Gene]
  • LOC101927817:uncharacterized LOC101927817 [Gene]
  • LOC105371414:uncharacterized LOC105371414 [Gene]
  • LOC128462377:uncharacterized LOC128462377 [Gene]
  • LOC339059:uncharacterized LOC339059 [Gene]
  • ZNF778:zinc finger protein 778 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
16q24.2-24.3
Genomic location:
Preferred name:
GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1
HGVS:
  • NC_000016.10:g.(?_88662702)_(89454555_?)del
  • NC_000016.8:g.(?_87256611)_(88048464_?)del
  • NC_000016.9:g.(?_88729110)_(89520963_?)del
Links:
dbVar: nssv577576; dbVar: nsv532062
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
SCV000080739GeneDx
criteria provided, single submitter

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

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 GeneDx, SCV000080739.4

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

Last Updated: Oct 14, 2023