U.S. flag

An official website of the United States government

GRCh38/hg38 17q11.2(chr17:30831320-31322174)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 10, 2014
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:
RCV000142237.5

Allele description [Variation Report for GRCh38/hg38 17q11.2(chr17:30831320-31322174)x3]

GRCh38/hg38 17q11.2(chr17:30831320-31322174)x3

Genes:
  • LOC130060644:ATAC-STARR-seq lymphoblastoid active region 12002 [Gene]
  • LOC130060648:ATAC-STARR-seq lymphoblastoid active region 12003 [Gene]
  • LOC130060650:ATAC-STARR-seq lymphoblastoid active region 12004 [Gene]
  • LOC130060651:ATAC-STARR-seq lymphoblastoid active region 12005 [Gene]
  • LOC130060652:ATAC-STARR-seq lymphoblastoid active region 12007 [Gene]
  • LOC130060654:ATAC-STARR-seq lymphoblastoid active region 12008 [Gene]
  • LOC130060655:ATAC-STARR-seq lymphoblastoid active region 12009 [Gene]
  • LOC130060656:ATAC-STARR-seq lymphoblastoid active region 12010 [Gene]
  • LOC130060645:ATAC-STARR-seq lymphoblastoid silent region 8402 [Gene]
  • LOC130060646:ATAC-STARR-seq lymphoblastoid silent region 8403 [Gene]
  • LOC130060647:ATAC-STARR-seq lymphoblastoid silent region 8404 [Gene]
  • LOC130060649:ATAC-STARR-seq lymphoblastoid silent region 8405 [Gene]
  • LOC130060653:ATAC-STARR-seq lymphoblastoid silent region 8407 [Gene]
  • ATAD5:ATPase family AAA domain containing 5 [Gene - OMIM - HGNC]
  • ADAP2:ArfGAP with dual PH domains 2 [Gene - OMIM - HGNC]
  • MIR4733HG:MIR4733 host gene [Gene - HGNC]
  • LOC129390850:MPRA-validated peak2795 silencer [Gene]
  • LOC129390851:MPRA-validated peak2796 silencer [Gene]
  • LOC111811965:NF1 (neurofibromin 1) promoter region [Gene]
  • LOC108281169:NF1 intron 1 Alu-mediated recombination region [Gene]
  • LOC108281170:NF1 intron 2 Alu-mediated recombination region [Gene]
  • LOC108281180:NF1 intron 3 Alu-mediated recombination region [Gene]
  • LOC108281181:NF1 intron 8 Alu-mediated recombination region [Gene]
  • LOC108783647:NF1-REPb PRS3 recombination region [Gene]
  • EVI2A:ecotropic viral integration site 2A [Gene - OMIM - HGNC]
  • EVI2B:ecotropic viral integration site 2B [Gene - OMIM - HGNC]
  • MIR4733:microRNA 4733 [Gene - HGNC]
  • NF1:neurofibromin 1 [Gene - OMIM - HGNC]
  • OMG:oligodendrocyte myelin glycoprotein [Gene - OMIM - HGNC]
  • RNF135:ring finger protein 135 [Gene - OMIM - HGNC]
  • TEFM:transcription elongation factor, mitochondrial [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
GRCh38/hg38 17q11.2(chr17:30831320-31322174)x3
HGVS:
  • NC_000017.11:g.(?_30831320)_(31322174_?)dup
  • NC_000017.10:g.(?_29158338)_(29649192_?)dup
Links:
dbVar: nssv3395246; dbVar: nsv996084
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
SCV000183513ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Mar 10, 2014) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humande novoyes1not 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, SCV000183513.4

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

Last Updated: May 7, 2024