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GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 5, 2011
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000135695.6

Allele description [Variation Report for GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3]

GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3

Genes:
  • LOC130058198:ATAC-STARR-seq lymphoblastoid active region 10241 [Gene]
  • LOC130058199:ATAC-STARR-seq lymphoblastoid active region 10242 [Gene]
  • LOC130058200:ATAC-STARR-seq lymphoblastoid active region 10248 [Gene]
  • LOC130058201:ATAC-STARR-seq lymphoblastoid active region 10249 [Gene]
  • LOC130058202:ATAC-STARR-seq lymphoblastoid active region 10250 [Gene]
  • LOC130058209:ATAC-STARR-seq lymphoblastoid active region 10253 [Gene]
  • LOC130058195:ATAC-STARR-seq lymphoblastoid silent region 7010 [Gene]
  • LOC130058196:ATAC-STARR-seq lymphoblastoid silent region 7011 [Gene]
  • LOC130058197:ATAC-STARR-seq lymphoblastoid silent region 7012 [Gene]
  • LOC130058203:ATAC-STARR-seq lymphoblastoid silent region 7014 [Gene]
  • LOC130058204:ATAC-STARR-seq lymphoblastoid silent region 7015 [Gene]
  • LOC130058205:ATAC-STARR-seq lymphoblastoid silent region 7016 [Gene]
  • LOC130058206:ATAC-STARR-seq lymphoblastoid silent region 7017 [Gene]
  • LOC130058207:ATAC-STARR-seq lymphoblastoid silent region 7019 [Gene]
  • LOC130058208:ATAC-STARR-seq lymphoblastoid silent region 7020 [Gene]
  • LOC130058210:ATAC-STARR-seq lymphoblastoid silent region 7024 [Gene]
  • LOC116268480:CRISPRi-validated cis-regulatory element chr16.496 [Gene]
  • NDUFB10:NADH:ubiquinone oxidoreductase subunit B10 [Gene - OMIM - HGNC]
  • NOXO1:NADPH oxidase organizer 1 [Gene - OMIM - HGNC]
  • NHERF2:NHERF family PDZ scaffold protein 2 [Gene - OMIM - HGNC]
  • PKD1-AS1:PKD1 antisense RNA 1 [Gene - HGNC]
  • LOC121530610:Sharpr-MPRA regulatory region 1858 [Gene]
  • LOC125146377:Sharpr-MPRA regulatory region 2092 [Gene]
  • LOC125146375:Sharpr-MPRA regulatory region 7653 [Gene]
  • TSC2:TSC complex subunit 2 [Gene - OMIM - HGNC]
  • GFER:growth factor, augmenter of liver regeneration [Gene - OMIM - HGNC]
  • HS3ST6:heparan sulfate-glucosamine 3-sulfotransferase 6 [Gene - OMIM - HGNC]
  • LINC02124:long intergenic non-protein coding RNA 2124 [Gene - HGNC]
  • LINC00254:long intergenic non-protein coding RNA 254 [Gene - HGNC]
  • MEIOB:meiosis specific with OB-fold [Gene - OMIM - HGNC]
  • MSRB1:methionine sulfoxide reductase B1 [Gene - OMIM - HGNC]
  • MIR1225:microRNA 1225 [Gene - OMIM - HGNC]
  • MIR6511B1:microRNA 6511b-1 [Gene - HGNC]
  • NPW:neuropeptide W [Gene - OMIM - HGNC]
  • NTHL1:nth like DNA glycosylase 1 [Gene - OMIM - HGNC]
  • PKD1:polycystin 1, transient receptor potential channel interacting [Gene - OMIM - HGNC]
  • RPL3L:ribosomal protein L3 like [Gene - OMIM - HGNC]
  • RPS2:ribosomal protein S2 [Gene - OMIM - HGNC]
  • RNF151:ring finger protein 151 [Gene - HGNC]
  • SNHG9:small nucleolar RNA host gene 9 [Gene - HGNC]
  • SNORA10:small nucleolar RNA, H/ACA box 10 [Gene - HGNC]
  • SNORA64:small nucleolar RNA, H/ACA box 64 [Gene - HGNC]
  • SNORA78:small nucleolar RNA, H/ACA box 78 [Gene - HGNC]
  • SYNGR3:synaptogyrin 3 [Gene - OMIM - HGNC]
  • TBL3:transducin beta like 3 [Gene - OMIM - HGNC]
  • ZNF598:zinc finger protein 598, E3 ubiquitin ligase [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3
HGVS:
  • NC_000016.10:g.(?_1850978)_(2116369_?)dup
  • NC_000016.8:g.(?_1840980)_(2106371_?)dup
  • NC_000016.9:g.(?_1900979)_(2166370_?)dup
Links:
dbVar: nssv706455; dbVar: nsv530542
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
SCV000175583ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Aug 5, 2011) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000175583.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024