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GRCh38/hg38 17q11.2(chr17:30684919-32021402)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 30, 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:
RCV000140221.3

Allele description [Variation Report for GRCh38/hg38 17q11.2(chr17:30684919-32021402)x1]

GRCh38/hg38 17q11.2(chr17:30684919-32021402)x1

Genes:
  • LOC130060642:ATAC-STARR-seq lymphoblastoid active region 12000 [Gene]
  • LOC130060643:ATAC-STARR-seq lymphoblastoid active region 12001 [Gene]
  • 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]
  • LOC130060657:ATAC-STARR-seq lymphoblastoid active region 12011 [Gene]
  • LOC130060660:ATAC-STARR-seq lymphoblastoid active region 12012 [Gene]
  • LOC130060661:ATAC-STARR-seq lymphoblastoid active region 12013 [Gene]
  • LOC130060662:ATAC-STARR-seq lymphoblastoid active region 12014 [Gene]
  • LOC130060663:ATAC-STARR-seq lymphoblastoid active region 12015 [Gene]
  • LOC130060664:ATAC-STARR-seq lymphoblastoid active region 12016 [Gene]
  • LOC130060666:ATAC-STARR-seq lymphoblastoid active region 12017 [Gene]
  • LOC130060667:ATAC-STARR-seq lymphoblastoid active region 12019 [Gene]
  • LOC130060669:ATAC-STARR-seq lymphoblastoid active region 12020 [Gene]
  • LOC130060670:ATAC-STARR-seq lymphoblastoid active region 12021 [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]
  • LOC130060658:ATAC-STARR-seq lymphoblastoid silent region 8410 [Gene]
  • LOC130060659:ATAC-STARR-seq lymphoblastoid silent region 8411 [Gene]
  • LOC130060665:ATAC-STARR-seq lymphoblastoid silent region 8412 [Gene]
  • LOC130060668:ATAC-STARR-seq lymphoblastoid silent region 8414 [Gene]
  • LOC130060671:ATAC-STARR-seq lymphoblastoid silent region 8416 [Gene]
  • LOC130060672:ATAC-STARR-seq lymphoblastoid silent region 8417 [Gene]
  • ATAD5:ATPase family AAA domain containing 5 [Gene - OMIM - HGNC]
  • ADAP2:ArfGAP with dual PH domains 2 [Gene - OMIM - HGNC]
  • LOC126862531:BRD4-independent group 4 enhancer GRCh37_chr17:30088656-30089855 [Gene]
  • MIR365BHG:MIR365B and MIR4725 host gene [Gene - 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]
  • LOC108281182:NF1 intron 50 Alu-mediated recombination region [Gene]
  • LOC108281181:NF1 intron 8 Alu-mediated recombination region [Gene]
  • LOC108783647:NF1-REPb PRS3 recombination region [Gene]
  • RAB11FIP4:RAB11 family interacting protein 4 [Gene - OMIM - HGNC]
  • LOC108783653:SUZ12 PRS4 recombination region [Gene]
  • SUZ12:SUZ12 polycomb repressive complex 2 subunit [Gene - OMIM - HGNC]
  • LOC108783652:SUZ12P1 PRS4 recombination region [Gene]
  • LOC121587586:Sharpr-MPRA regulatory region 11348 [Gene]
  • LOC121587585:Sharpr-MPRA regulatory region 4018 [Gene]
  • LOC112529907:Sharpr-MPRA regulatory region 4911 [Gene]
  • LOC125177455:Sharpr-MPRA regulatory region 6529 [Gene]
  • LOC125177454:Sharpr-MPRA regulatory region 6872 [Gene]
  • UTP6:UTP6 small subunit processome component [Gene - HGNC]
  • COPRS:coordinator of PRMT5 and differentiation stimulator [Gene - HGNC]
  • CRLF3:cytokine receptor like factor 3 [Gene - OMIM - HGNC]
  • EVI2A:ecotropic viral integration site 2A [Gene - OMIM - HGNC]
  • EVI2B:ecotropic viral integration site 2B [Gene - OMIM - HGNC]
  • LRRC37B:leucine rich repeat containing 37B [Gene - OMIM - HGNC]
  • MIR193A:microRNA 193a [Gene - OMIM - HGNC]
  • MIR365B:microRNA 365b [Gene - HGNC]
  • MIR4724:microRNA 4724 [Gene - HGNC]
  • MIR4725:microRNA 4725 [Gene - 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]
  • TRT-CGT4-1:tRNA-Thr (anticodon CGT) 4-1 [Gene - HGNC]
  • TEFM:transcription elongation factor, mitochondrial [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
GRCh38/hg38 17q11.2(chr17:30684919-32021402)x1
HGVS:
  • NC_000017.11:g.(?_30684919)_(32021402_?)del
  • NC_000017.10:g.(?_29011937)_(30348421_?)del
  • NC_000017.9:g.(?_26036063)_(27372534_?)del
Links:
dbVar: nssv1609343; dbVar: nsv931398
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
SCV000180895GeneDx
no assertion criteria provided
Pathogenic
(Apr 30, 2011) 		not providedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000180895.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023