U.S. flag

An official website of the United States government

GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)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:
RCV000053362.6

Allele description [Variation Report for GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1]

GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1

Genes:
  • LOC130059690:ATAC-STARR-seq lymphoblastoid active region 11320 [Gene]
  • LOC130059692:ATAC-STARR-seq lymphoblastoid active region 11321 [Gene]
  • LOC130059695:ATAC-STARR-seq lymphoblastoid active region 11322 [Gene]
  • LOC130059697:ATAC-STARR-seq lymphoblastoid active region 11324 [Gene]
  • LOC130059698:ATAC-STARR-seq lymphoblastoid active region 11325 [Gene]
  • LOC130059699:ATAC-STARR-seq lymphoblastoid active region 11326 [Gene]
  • LOC130059701:ATAC-STARR-seq lymphoblastoid active region 11327 [Gene]
  • LOC130059702:ATAC-STARR-seq lymphoblastoid active region 11329 [Gene]
  • LOC130059703:ATAC-STARR-seq lymphoblastoid active region 11330 [Gene]
  • LOC130059704:ATAC-STARR-seq lymphoblastoid active region 11331 [Gene]
  • LOC130059705:ATAC-STARR-seq lymphoblastoid active region 11334 [Gene]
  • LOC130059706:ATAC-STARR-seq lymphoblastoid active region 11335 [Gene]
  • LOC130059707:ATAC-STARR-seq lymphoblastoid active region 11339 [Gene]
  • LOC130059708:ATAC-STARR-seq lymphoblastoid active region 11340 [Gene]
  • LOC130059710:ATAC-STARR-seq lymphoblastoid active region 11342 [Gene]
  • LOC130059712:ATAC-STARR-seq lymphoblastoid active region 11343 [Gene]
  • LOC130059713:ATAC-STARR-seq lymphoblastoid active region 11344 [Gene]
  • LOC130059714:ATAC-STARR-seq lymphoblastoid active region 11345 [Gene]
  • LOC130059715:ATAC-STARR-seq lymphoblastoid active region 11346 [Gene]
  • LOC130059716:ATAC-STARR-seq lymphoblastoid active region 11348 [Gene]
  • LOC130059717:ATAC-STARR-seq lymphoblastoid active region 11349 [Gene]
  • LOC130059726:ATAC-STARR-seq lymphoblastoid active region 11351 [Gene]
  • LOC130059727:ATAC-STARR-seq lymphoblastoid active region 11352 [Gene]
  • LOC130059728:ATAC-STARR-seq lymphoblastoid active region 11353 [Gene]
  • LOC130059729:ATAC-STARR-seq lymphoblastoid active region 11354 [Gene]
  • LOC130059730:ATAC-STARR-seq lymphoblastoid active region 11355 [Gene]
  • LOC130059733:ATAC-STARR-seq lymphoblastoid active region 11356 [Gene]
  • LOC130059734:ATAC-STARR-seq lymphoblastoid active region 11357 [Gene]
  • LOC130059735:ATAC-STARR-seq lymphoblastoid active region 11358 [Gene]
  • LOC130059739:ATAC-STARR-seq lymphoblastoid active region 11359 [Gene]
  • 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]
  • LOC130059691:ATAC-STARR-seq lymphoblastoid silent region 7833 [Gene]
  • LOC130059693:ATAC-STARR-seq lymphoblastoid silent region 7836 [Gene]
  • LOC130059694:ATAC-STARR-seq lymphoblastoid silent region 7837 [Gene]
  • LOC130059696:ATAC-STARR-seq lymphoblastoid silent region 7838 [Gene]
  • LOC130059700:ATAC-STARR-seq lymphoblastoid silent region 7840 [Gene]
  • LOC130059709:ATAC-STARR-seq lymphoblastoid silent region 7841 [Gene]
  • LOC130059711:ATAC-STARR-seq lymphoblastoid silent region 7842 [Gene]
  • LOC130059718:ATAC-STARR-seq lymphoblastoid silent region 7847 [Gene]
  • LOC130059719:ATAC-STARR-seq lymphoblastoid silent region 7848 [Gene]
  • LOC130059720:ATAC-STARR-seq lymphoblastoid silent region 7849 [Gene]
  • LOC130059721:ATAC-STARR-seq lymphoblastoid silent region 7850 [Gene]
  • LOC130059722:ATAC-STARR-seq lymphoblastoid silent region 7851 [Gene]
  • LOC130059723:ATAC-STARR-seq lymphoblastoid silent region 7852 [Gene]
  • LOC130059724:ATAC-STARR-seq lymphoblastoid silent region 7853 [Gene]
  • LOC130059725:ATAC-STARR-seq lymphoblastoid silent region 7854 [Gene]
  • LOC130059731:ATAC-STARR-seq lymphoblastoid silent region 7857 [Gene]
  • LOC130059732:ATAC-STARR-seq lymphoblastoid silent region 7858 [Gene]
  • LOC130059736:ATAC-STARR-seq lymphoblastoid silent region 7859 [Gene]
  • LOC130059737:ATAC-STARR-seq lymphoblastoid silent region 7860 [Gene]
  • LOC130059738:ATAC-STARR-seq lymphoblastoid silent region 7861 [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]
  • LOC126862439:BRD4-independent group 4 enhancer GRCh37_chr16:87736382-87737581 [Gene]
  • LOC126862441:BRD4-independent group 4 enhancer GRCh37_chr16:87823556-87824755 [Gene]
  • LOC126862442:BRD4-independent group 4 enhancer GRCh37_chr16:87870283-87871482 [Gene]
  • LOC126862444:BRD4-independent group 4 enhancer GRCh37_chr16:88150297-88151496 [Gene]
  • LOC126862446:BRD4-independent group 4 enhancer GRCh37_chr16:88476410-88477609 [Gene]
  • BANP:BTG3 associated nuclear protein [Gene - OMIM - HGNC]
  • C16orf95-DT:C16orf95 divergent transcript [Gene - HGNC]
  • CBFA2T3:CBFA2/RUNX1 partner transcriptional co-repressor 3 [Gene - OMIM - HGNC]
  • LOC126862437:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:87440788-87441987 [Gene]
  • LOC126862447:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:88884193-88885392 [Gene]
  • LOC116276453:CRISPRi-validated cis-regulatory element chr16.4806 [Gene]
  • FBXO31:F-box protein 31 [Gene - OMIM - HGNC]
  • LOC111413011:GATA motif-containing MPRA enhancer 137 [Gene]
  • HSALR1:HSP90AB1 associated lncRNA 1 [Gene - HGNC]
  • LOC129390815:MPRA-validated peak2658 silencer [Gene]
  • 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]
  • LOC126862438:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:87490779-87491978 [Gene]
  • LOC126862440:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:87758101-87759300 [Gene]
  • LOC126862443:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:87903871-87905070 [Gene]
  • LOC126862445:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:88298191-88299390 [Gene]
  • LOC112486221:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:88366225-88367424 [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]
  • LOC112486217:Sharpr-MPRA regulatory region 10585 [Gene]
  • LOC112486218:Sharpr-MPRA regulatory region 11460 [Gene]
  • LOC125177394:Sharpr-MPRA regulatory region 11767 [Gene]
  • LOC125177390:Sharpr-MPRA regulatory region 12005 [Gene]
  • LOC121587566:Sharpr-MPRA regulatory region 13594 [Gene]
  • LOC112486220:Sharpr-MPRA regulatory region 14328 [Gene]
  • LOC125177392:Sharpr-MPRA regulatory region 2373 [Gene]
  • LOC125177395:Sharpr-MPRA regulatory region 2584 [Gene]
  • LOC112486222:Sharpr-MPRA regulatory region 3966 [Gene]
  • LOC121848000:Sharpr-MPRA regulatory region 4154 [Gene]
  • LOC125177391:Sharpr-MPRA regulatory region 5705 [Gene]
  • LOC112486219:Sharpr-MPRA regulatory region 6305 [Gene]
  • LOC112486216:Sharpr-MPRA regulatory region 988 [Gene]
  • LOC110121450:VISTA enhancer hs1854 [Gene]
  • ZC3H18-AS1:ZC3H18 antisense RNA 1 (head to head) [Gene - HGNC]
  • ZCCHC14-DT:ZCCHC14 divergent transcript [Gene - HGNC]
  • ZFPM1-AS1:ZFPM1 antisense RNA 1 [Gene - HGNC]
  • 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]
  • CA5A:carbonic anhydrase 5A [Gene - OMIM - HGNC]
  • CDT1:chromatin licensing and DNA replication factor 1 [Gene - OMIM - HGNC]
  • C16orf95:chromosome 16 open reading frame 95 [Gene - HGNC]
  • CYBA:cytochrome b-245 alpha chain [Gene - OMIM - HGNC]
  • CTU2:cytosolic thiouridylase subunit 2 [Gene - OMIM - HGNC]
  • GALNS:galactosamine (N-acetyl)-6-sulfatase [Gene - OMIM - HGNC]
  • IL17C:interleukin 17C [Gene - OMIM - HGNC]
  • LOC109029536:junctophilin 3 repeat instability region [Gene]
  • JPH3:junctophilin 3 [Gene - OMIM - HGNC]
  • KLHDC4:kelch domain containing 4 [Gene - OMIM - HGNC]
  • LINC02138:long intergenic non-protein coding RNA 2138 [Gene - HGNC]
  • LINC02182:long intergenic non-protein coding RNA 2182 [Gene - HGNC]
  • LINC00304:long intergenic non-protein coding RNA 304 [Gene - HGNC]
  • MVD:mevalonate diphosphate decarboxylase [Gene - OMIM - HGNC]
  • MIR11401:microRNA 11401 [Gene - HGNC]
  • MIR4722:microRNA 4722 [Gene - HGNC]
  • MIR5189:microRNA 5189 [Gene - HGNC]
  • MIR6775:microRNA 6775 [Gene - HGNC]
  • MAP1LC3B:microtubule associated protein 1 light chain 3 beta [Gene - OMIM - HGNC]
  • PIEZO1:piezo type mechanosensitive ion channel component 1 (Er blood group) [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]
  • SLC7A5:solute carrier family 7 member 5 [Gene - OMIM - HGNC]
  • TRM-CAT6-1:tRNA-Met (anticodon CAT) 6-1 [Gene - HGNC]
  • TRAPPC2L:trafficking protein particle complex subunit 2L [Gene - OMIM - HGNC]
  • LOC100129215:uncharacterized LOC100129215 [Gene]
  • LOC100129697:uncharacterized LOC100129697 [Gene]
  • LOC101927793:uncharacterized LOC101927793 [Gene]
  • LOC102724467:uncharacterized LOC102724467 [Gene]
  • LOC105371401:uncharacterized LOC105371401 [Gene]
  • LOC107984862:uncharacterized LOC107984862 [Gene]
  • LOC339059:uncharacterized LOC339059 [Gene]
  • LOC400553:uncharacterized LOC400553 [Gene]
  • ZC3H18:zinc finger CCCH-type containing 18 [Gene - HGNC]
  • ZCCHC14:zinc finger CCHC-type containing 14 [Gene - OMIM - HGNC]
  • ZNF469:zinc finger protein 469 [Gene - OMIM - HGNC]
  • ZNF778:zinc finger protein 778 [Gene - HGNC]
  • ZFPM1:zinc finger protein, FOG family member 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
16q24.2-24.3
Genomic location:
Preferred name:
GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1
HGVS:
  • NC_000016.10:g.(?_87306529)_(89269079_?)del
  • NC_000016.8:g.(?_85897636)_(87862988_?)del
  • NC_000016.9:g.(?_87340135)_(89335487_?)del
Links:
dbVar: nssv577573; dbVar: nsv532043
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000080720ISCA site 15

See additional submitters

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 ISCA site 15, SCV000080720.4

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

Last Updated: May 7, 2024