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GRCh38/hg38 17q11.2(chr17:30614048-30999204)x1 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 14, 2013
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:
RCV000143260.5

Allele description [Variation Report for GRCh38/hg38 17q11.2(chr17:30614048-30999204)x1]

GRCh38/hg38 17q11.2(chr17:30614048-30999204)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]
  • 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]
  • ATAD5:ATPase family AAA domain containing 5 [Gene - OMIM - HGNC]
  • ADAP2:ArfGAP with dual PH domains 2 [Gene - OMIM - HGNC]
  • LOC129390850:MPRA-validated peak2795 silencer [Gene]
  • LOC129390851:MPRA-validated peak2796 silencer [Gene]
  • LOC106113036:NF1-REPa PRS1 recombination region [Gene]
  • LOC108771181:NF1-REPa PRS2 recombination region [Gene]
  • LOC108771183:NF1-REPa UWA160-1 recombination region [Gene]
  • LOC108783652:SUZ12P1 PRS4 recombination region [Gene]
  • LOC121587585:Sharpr-MPRA regulatory region 4018 [Gene]
  • LOC125177453:Sharpr-MPRA regulatory region 474 [Gene]
  • CRLF3:cytokine receptor like factor 3 [Gene - OMIM - HGNC]
  • RNF135:ring finger protein 135 [Gene - OMIM - 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(chr17:30614048-30999204)x1
HGVS:
  • NC_000017.11:g.(?_30614048)_(30999204_?)del
  • NC_000017.10:g.(?_28941066)_(29326222_?)del
  • NC_000017.9:g.(?_25965192)_(26350348_?)del
Links:
dbVar: nssv1610368; dbVar: nsv932176
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
SCV000181659ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Jan 14, 2013) 		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, SCV000181659.4

#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