U.S. flag

An official website of the United States government

GRCh38/hg38 16p11.2(chr16:28531783-29025786)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:
RCV000053490.6

Allele description [Variation Report for GRCh38/hg38 16p11.2(chr16:28531783-29025786)x1]

GRCh38/hg38 16p11.2(chr16:28531783-29025786)x1

Genes:
  • LOC130058729:ATAC-STARR-seq lymphoblastoid active region 10642 [Gene]
  • LOC130058731:ATAC-STARR-seq lymphoblastoid active region 10643 [Gene]
  • LOC130058735:ATAC-STARR-seq lymphoblastoid active region 10645 [Gene]
  • LOC130058736:ATAC-STARR-seq lymphoblastoid active region 10646 [Gene]
  • LOC130058738:ATAC-STARR-seq lymphoblastoid active region 10648 [Gene]
  • LOC130058739:ATAC-STARR-seq lymphoblastoid active region 10649 [Gene]
  • LOC130058742:ATAC-STARR-seq lymphoblastoid active region 10650 [Gene]
  • LOC130058743:ATAC-STARR-seq lymphoblastoid active region 10651 [Gene]
  • LOC130058746:ATAC-STARR-seq lymphoblastoid active region 10652 [Gene]
  • LOC130058747:ATAC-STARR-seq lymphoblastoid active region 10653 [Gene]
  • LOC130058748:ATAC-STARR-seq lymphoblastoid active region 10654 [Gene]
  • LOC130058730:ATAC-STARR-seq lymphoblastoid silent region 7310 [Gene]
  • LOC130058732:ATAC-STARR-seq lymphoblastoid silent region 7311 [Gene]
  • LOC130058733:ATAC-STARR-seq lymphoblastoid silent region 7312 [Gene]
  • LOC130058734:ATAC-STARR-seq lymphoblastoid silent region 7313 [Gene]
  • LOC130058737:ATAC-STARR-seq lymphoblastoid silent region 7314 [Gene]
  • LOC130058740:ATAC-STARR-seq lymphoblastoid silent region 7315 [Gene]
  • LOC130058741:ATAC-STARR-seq lymphoblastoid silent region 7316 [Gene]
  • LOC130058744:ATAC-STARR-seq lymphoblastoid silent region 7317 [Gene]
  • LOC130058745:ATAC-STARR-seq lymphoblastoid silent region 7318 [Gene]
  • LOC130058749:ATAC-STARR-seq lymphoblastoid silent region 7321 [Gene]
  • LOC130058750:ATAC-STARR-seq lymphoblastoid silent region 7322 [Gene]
  • LOC130058751:ATAC-STARR-seq lymphoblastoid silent region 7323 [Gene]
  • LOC130058752:ATAC-STARR-seq lymphoblastoid silent region 7324 [Gene]
  • ATP2A1-AS1:ATP2A1 antisense RNA 1 [Gene - HGNC]
  • ATP2A1:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 [Gene - OMIM - HGNC]
  • CD19:CD19 molecule [Gene - OMIM - HGNC]
  • LOC126862326:MED14-independent group 3 enhancer GRCh37_chr16:28549089-28550288 [Gene]
  • LOC129390780:MPRA-validated peak2552 silencer [Gene]
  • LOC129390781:MPRA-validated peak2553 silencer [Gene]
  • NFATC2IP-AS1:NFATC2IP antisense RNA 1 [Gene - HGNC]
  • SGF29:SAGA complex associated factor 29 [Gene - OMIM - HGNC]
  • SH2B1:SH2B adaptor protein 1 [Gene - OMIM - HGNC]
  • SPNS1:SPNS lysolipid transporter 1, lysophospholipid [Gene - OMIM - HGNC]
  • LOC112340393:Sharpr-MPRA regulatory region 4004 [Gene]
  • LOC112340392:Sharpr-MPRA regulatory region 4245 [Gene]
  • TUFM:Tu translation elongation factor, mitochondrial [Gene - OMIM - HGNC]
  • ATXN2L:ataxin 2 like [Gene - OMIM - HGNC]
  • EIF3C:eukaryotic translation initiation factor 3 subunit C [Gene - OMIM - HGNC]
  • LAT:linker for activation of T cells [Gene - OMIM - HGNC]
  • MIR4517:microRNA 4517 [Gene - HGNC]
  • MIR4721:microRNA 4721 [Gene - HGNC]
  • MIR6862-2:microRNA 6862-2 [Gene - HGNC]
  • NFATC2IP:nuclear factor of activated T cells 2 interacting protein [Gene - OMIM - HGNC]
  • NPIPB8:nuclear pore complex interacting protein family member B8 [Gene - HGNC]
  • NPIPB9:nuclear pore complex interacting protein family member B9 [Gene - HGNC]
  • NUPR1:nuclear protein 1, transcriptional regulator [Gene - OMIM - HGNC]
  • RABEP2:rabaptin, RAB GTPase binding effector protein 2 [Gene - OMIM - HGNC]
  • SULT1A1:sulfotransferase family 1A member 1 [Gene - OMIM - HGNC]
  • SULT1A2:sulfotransferase family 1A member 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
GRCh38/hg38 16p11.2(chr16:28531783-29025786)x1
HGVS:
  • NC_000016.10:g.(?_28531783)_(29025786_?)del
  • NC_000016.8:g.(?_28450605)_(28944608_?)del
  • NC_000016.9:g.(?_28543104)_(29037107_?)del
Links:
dbVar: nssv577669; dbVar: nsv532168
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
SCV000080848ISCA Site 6

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(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 6, SCV000080848.4

#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