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GRCh38/hg38 16p12.1(chr16:26966063-28234594)x3 AND See cases

Germline classification:
Uncertain significance (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:
RCV000053861.5

Allele description [Variation Report for GRCh38/hg38 16p12.1(chr16:26966063-28234594)x3]

GRCh38/hg38 16p12.1(chr16:26966063-28234594)x3

Genes:
  • LOC130058692:ATAC-STARR-seq lymphoblastoid active region 10609 [Gene]
  • LOC130058693:ATAC-STARR-seq lymphoblastoid active region 10610 [Gene]
  • LOC130058694:ATAC-STARR-seq lymphoblastoid active region 10611 [Gene]
  • LOC130058696:ATAC-STARR-seq lymphoblastoid active region 10612 [Gene]
  • LOC130058697:ATAC-STARR-seq lymphoblastoid active region 10613 [Gene]
  • LOC130058698:ATAC-STARR-seq lymphoblastoid active region 10614 [Gene]
  • LOC130058702:ATAC-STARR-seq lymphoblastoid active region 10615 [Gene]
  • LOC130058704:ATAC-STARR-seq lymphoblastoid active region 10616 [Gene]
  • LOC130058705:ATAC-STARR-seq lymphoblastoid active region 10617 [Gene]
  • LOC130058706:ATAC-STARR-seq lymphoblastoid active region 10618 [Gene]
  • LOC130058708:ATAC-STARR-seq lymphoblastoid active region 10622 [Gene]
  • LOC130058709:ATAC-STARR-seq lymphoblastoid active region 10623 [Gene]
  • LOC130058710:ATAC-STARR-seq lymphoblastoid active region 10624 [Gene]
  • LOC130058711:ATAC-STARR-seq lymphoblastoid active region 10625 [Gene]
  • LOC130058712:ATAC-STARR-seq lymphoblastoid active region 10626 [Gene]
  • LOC130058713:ATAC-STARR-seq lymphoblastoid active region 10627 [Gene]
  • LOC130058714:ATAC-STARR-seq lymphoblastoid active region 10630 [Gene]
  • LOC130058715:ATAC-STARR-seq lymphoblastoid active region 10631 [Gene]
  • LOC130058716:ATAC-STARR-seq lymphoblastoid active region 10632 [Gene]
  • LOC130058717:ATAC-STARR-seq lymphoblastoid active region 10633 [Gene]
  • LOC130058718:ATAC-STARR-seq lymphoblastoid active region 10634 [Gene]
  • LOC130058719:ATAC-STARR-seq lymphoblastoid active region 10635 [Gene]
  • LOC130058720:ATAC-STARR-seq lymphoblastoid active region 10636 [Gene]
  • LOC130058721:ATAC-STARR-seq lymphoblastoid active region 10637 [Gene]
  • LOC130058722:ATAC-STARR-seq lymphoblastoid active region 10638 [Gene]
  • LOC130058724:ATAC-STARR-seq lymphoblastoid active region 10639 [Gene]
  • LOC130058691:ATAC-STARR-seq lymphoblastoid silent region 7297 [Gene]
  • LOC130058695:ATAC-STARR-seq lymphoblastoid silent region 7298 [Gene]
  • LOC130058699:ATAC-STARR-seq lymphoblastoid silent region 7299 [Gene]
  • LOC130058700:ATAC-STARR-seq lymphoblastoid silent region 7301 [Gene]
  • LOC130058701:ATAC-STARR-seq lymphoblastoid silent region 7302 [Gene]
  • LOC130058703:ATAC-STARR-seq lymphoblastoid silent region 7303 [Gene]
  • LOC130058707:ATAC-STARR-seq lymphoblastoid silent region 7304 [Gene]
  • LOC130058723:ATAC-STARR-seq lymphoblastoid silent region 7305 [Gene]
  • LOC126862325:BRD4-independent group 4 enhancer GRCh37_chr16:28030002-28031201 [Gene]
  • LOC126862321:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:27322486-27323685 [Gene]
  • GSG1L:GSG1 like [Gene - OMIM - HGNC]
  • IL21R-AS1:IL21R antisense RNA 1 [Gene - HGNC]
  • LOC129390774:MPRA-validated peak2534 silencer [Gene]
  • LOC129390775:MPRA-validated peak2541 silencer [Gene]
  • LOC129390776:MPRA-validated peak2542 silencer [Gene]
  • LOC129390777:MPRA-validated peak2546 silencer [Gene]
  • LOC129390778:MPRA-validated peak2549 silencer [Gene]
  • NSMCE1:NSE1 homolog, SMC5-SMC6 complex component [Gene - OMIM - HGNC]
  • NSMCE1-DT:NSMCE1 divergent transcript [Gene - HGNC]
  • LOC126862322:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:27376379-27377578 [Gene]
  • LOC126862323:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:27780758-27781957 [Gene]
  • LOC126862324:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:28004462-28005661 [Gene]
  • LOC121587537:Sharpr-MPRA regulatory region 5139 [Gene]
  • LOC125146435:Sharpr-MPRA regulatory region 6679 [Gene]
  • LOC121587538:Sharpr-MPRA regulatory region 7417 [Gene]
  • LOC121587539:Sharpr-MPRA regulatory regions 5680 and 15498 [Gene]
  • C16orf82:chromosome 16 open reading frame 82 [Gene - HGNC]
  • XPO6:exportin 6 [Gene - OMIM - HGNC]
  • GTF3C1:general transcription factor IIIC subunit 1 [Gene - OMIM - HGNC]
  • IL21R:interleukin 21 receptor [Gene - OMIM - HGNC]
  • IL4R:interleukin 4 receptor [Gene - OMIM - HGNC]
  • KATNIP:katanin interacting protein [Gene - OMIM - HGNC]
  • LINC02129:long intergenic non-protein coding RNA 2129 [Gene - HGNC]
  • KDM8:lysine demethylase 8 [Gene - OMIM - HGNC]
  • LOC100128079:uncharacterized LOC100128079 [Gene]
Variant type:
copy number gain
Cytogenetic location:
16p12.1
Genomic location:
Preferred name:
GRCh38/hg38 16p12.1(chr16:26966063-28234594)x3
HGVS:
  • NC_000016.10:g.(?_26966063)_(28234594_?)dup
  • NC_000016.8:g.(?_26884885)_(28153416_?)dup
  • NC_000016.9:g.(?_26977384)_(28245915_?)dup
Links:
dbVar: nssv580891; dbVar: nsv532529
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
SCV000081224ISCA site 17

See additional submitters

criteria provided, single submitter

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

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 17, SCV000081224.4

#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