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GRCh38/hg38 16p11.2(chr16:30359229-30570499)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:
RCV000053863.4

Allele description [Variation Report for GRCh38/hg38 16p11.2(chr16:30359229-30570499)x3]

GRCh38/hg38 16p11.2(chr16:30359229-30570499)x3

Genes:
  • LOC130058826:ATAC-STARR-seq lymphoblastoid active region 10700 [Gene]
  • LOC130058834:ATAC-STARR-seq lymphoblastoid active region 10701 [Gene]
  • LOC130058835:ATAC-STARR-seq lymphoblastoid active region 10702 [Gene]
  • LOC130058836:ATAC-STARR-seq lymphoblastoid active region 10706 [Gene]
  • LOC130058837:ATAC-STARR-seq lymphoblastoid active region 10708 [Gene]
  • LOC130058841:ATAC-STARR-seq lymphoblastoid active region 10709 [Gene]
  • LOC130058842:ATAC-STARR-seq lymphoblastoid active region 10710 [Gene]
  • LOC130058844:ATAC-STARR-seq lymphoblastoid active region 10712 [Gene]
  • LOC130058845:ATAC-STARR-seq lymphoblastoid active region 10713 [Gene]
  • LOC130058846:ATAC-STARR-seq lymphoblastoid active region 10714 [Gene]
  • LOC130058847:ATAC-STARR-seq lymphoblastoid active region 10715 [Gene]
  • LOC130058823:ATAC-STARR-seq lymphoblastoid silent region 7363 [Gene]
  • LOC130058824:ATAC-STARR-seq lymphoblastoid silent region 7364 [Gene]
  • LOC130058825:ATAC-STARR-seq lymphoblastoid silent region 7365 [Gene]
  • LOC130058827:ATAC-STARR-seq lymphoblastoid silent region 7367 [Gene]
  • LOC130058828:ATAC-STARR-seq lymphoblastoid silent region 7368 [Gene]
  • LOC130058829:ATAC-STARR-seq lymphoblastoid silent region 7369 [Gene]
  • LOC130058830:ATAC-STARR-seq lymphoblastoid silent region 7370 [Gene]
  • LOC130058831:ATAC-STARR-seq lymphoblastoid silent region 7371 [Gene]
  • LOC130058832:ATAC-STARR-seq lymphoblastoid silent region 7372 [Gene]
  • LOC130058833:ATAC-STARR-seq lymphoblastoid silent region 7373 [Gene]
  • LOC130058838:ATAC-STARR-seq lymphoblastoid silent region 7375 [Gene]
  • LOC130058839:ATAC-STARR-seq lymphoblastoid silent region 7376 [Gene]
  • LOC130058840:ATAC-STARR-seq lymphoblastoid silent region 7377 [Gene]
  • LOC130058843:ATAC-STARR-seq lymphoblastoid silent region 7378 [Gene]
  • CD2BP2-DT:CD2BP2 divergent transcript [Gene - HGNC]
  • LOC128462412:CRISPRi-FlowFISH-validated ITGAL regulatory element GRCh37_chr16:30483658-30484232 [Gene]
  • ITGAL-AS1:ITGAL antisense RNA 1 [Gene - HGNC]
  • LOC121847978:Sharpr-MPRA regulatory region 2626 [Gene]
  • LOC121847979:Sharpr-MPRA regulatory region 3639 [Gene]
  • LOC112441445:Sharpr-MPRA regulatory region 7881 [Gene]
  • LOC125146442:Sharpr-MPRA regulatory region 8694 [Gene]
  • LOC112441444:Sharpr-MPRA regulatory region 9884 [Gene]
  • TBC1D10B:TBC1 domain family member 10B [Gene - OMIM - HGNC]
  • ZNF747-DT:ZNF747 divergent transcript [Gene - HGNC]
  • DCTPP1:dCTP pyrophosphatase 1 [Gene - OMIM - HGNC]
  • ITGAL:integrin subunit alpha L [Gene - OMIM - HGNC]
  • MIR4518:microRNA 4518 [Gene - HGNC]
  • MYL11:myosin light chain 11 [Gene - OMIM - HGNC]
  • SEPHS2:selenophosphate synthetase 2 [Gene - OMIM - HGNC]
  • SEPTIN1:septin 1 [Gene - OMIM - HGNC]
  • SNORA80C:small nucleolar RNA, H/ACA box 80C [Gene - HGNC]
  • ZNF48:zinc finger protein 48 [Gene - HGNC]
  • ZNF688:zinc finger protein 688 [Gene - HGNC]
  • ZNF747:zinc finger protein 747 [Gene - HGNC]
  • ZNF764:zinc finger protein 764 [Gene - OMIM - HGNC]
  • ZNF768:zinc finger protein 768 [Gene - OMIM - HGNC]
  • ZNF771:zinc finger protein 771 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
GRCh38/hg38 16p11.2(chr16:30359229-30570499)x3
HGVS:
  • NC_000016.10:g.(?_30359229)_(30570499_?)dup
  • NC_000016.8:g.(?_30278051)_(30489321_?)dup
  • NC_000016.9:g.(?_30370550)_(30581820_?)dup
Links:
dbVar: nssv580893; dbVar: nsv532531
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
SCV000081226GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Uncertain significance
(Aug 12, 2011) 		not providedclinical 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 GeneDx, SCV000081226.4

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

Last Updated: Oct 14, 2023