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GRCh38/hg38 17q23.3-24.1(chr17:64307125-64748462)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 22, 2010
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:
RCV000135784.5

Allele description [Variation Report for GRCh38/hg38 17q23.3-24.1(chr17:64307125-64748462)x1]

GRCh38/hg38 17q23.3-24.1(chr17:64307125-64748462)x1

Genes:
  • LOC130061432:ATAC-STARR-seq lymphoblastoid active region 12589 [Gene]
  • LOC130061433:ATAC-STARR-seq lymphoblastoid active region 12590 [Gene]
  • LOC130061434:ATAC-STARR-seq lymphoblastoid active region 12591 [Gene]
  • LOC130061436:ATAC-STARR-seq lymphoblastoid active region 12592 [Gene]
  • LOC130061437:ATAC-STARR-seq lymphoblastoid active region 12594 [Gene]
  • LOC130061439:ATAC-STARR-seq lymphoblastoid active region 12595 [Gene]
  • LOC130061440:ATAC-STARR-seq lymphoblastoid active region 12596 [Gene]
  • LOC130061441:ATAC-STARR-seq lymphoblastoid active region 12597 [Gene]
  • LOC130061442:ATAC-STARR-seq lymphoblastoid active region 12598 [Gene]
  • LOC130061446:ATAC-STARR-seq lymphoblastoid active region 12600 [Gene]
  • LOC130061435:ATAC-STARR-seq lymphoblastoid silent region 8842 [Gene]
  • LOC130061438:ATAC-STARR-seq lymphoblastoid silent region 8843 [Gene]
  • LOC130061443:ATAC-STARR-seq lymphoblastoid silent region 8844 [Gene]
  • LOC130061444:ATAC-STARR-seq lymphoblastoid silent region 8845 [Gene]
  • LOC130061445:ATAC-STARR-seq lymphoblastoid silent region 8846 [Gene]
  • DDX5:DEAD-box helicase 5 [Gene - OMIM - HGNC]
  • POLG2:DNA polymerase gamma 2, accessory subunit [Gene - OMIM - HGNC]
  • LOC126862616:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:62702502-62703701 [Gene]
  • SMURF2:SMAD specific E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
  • CEP95:centrosomal protein 95 [Gene - HGNC]
  • MILR1:mast cell immunoglobulin like receptor 1 [Gene - HGNC]
  • MIR3064:microRNA 3064 [Gene - HGNC]
  • MIR5047:microRNA 5047 [Gene - HGNC]
  • PECAM1:platelet and endothelial cell adhesion molecule 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
17q23.3-24.1
Genomic location:
Preferred name:
GRCh38/hg38 17q23.3-24.1(chr17:64307125-64748462)x1
HGVS:
  • NC_000017.11:g.(?_64307125)_(64748462_?)del
  • NC_000017.9:g.(?_59738217)_(60175042_?)del
  • NW_003315947.1:g.(?_110972)_(457041_?)del
Links:
dbVar: nssv582713; dbVar: nsv533047
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
SCV000175771ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Dec 22, 2010) 		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

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, SCV000175771.4

#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