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GRCh38/hg38 17p13.2(chr17:4141725-4472701)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000053974.6

Allele description [Variation Report for GRCh38/hg38 17p13.2(chr17:4141725-4472701)x3]

GRCh38/hg38 17p13.2(chr17:4141725-4472701)x3

Genes:
  • LOC130060018:ATAC-STARR-seq lymphoblastoid active region 11537 [Gene]
  • LOC130060020:ATAC-STARR-seq lymphoblastoid active region 11538 [Gene]
  • LOC130060021:ATAC-STARR-seq lymphoblastoid active region 11539 [Gene]
  • LOC130060017:ATAC-STARR-seq lymphoblastoid silent region 8033 [Gene]
  • LOC130060019:ATAC-STARR-seq lymphoblastoid silent region 8034 [Gene]
  • LOC130060022:ATAC-STARR-seq lymphoblastoid silent region 8037 [Gene]
  • LOC130060023:ATAC-STARR-seq lymphoblastoid silent region 8038 [Gene]
  • LOC126862466:MED14-independent group 3 enhancer GRCh37_chr17:4081807-4083006 [Gene]
  • LOC129390825:MPRA-validated peak2695 silencer [Gene]
  • SPNS3:SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative) [Gene - OMIM - HGNC]
  • LOC121587571:Sharpr-MPRA regulatory region 13848 [Gene]
  • ANKFY1:ankyrin repeat and FYVE domain containing 1 [Gene - OMIM - HGNC]
  • CYB5D2:cytochrome b5 domain containing 2 [Gene - HGNC]
  • UBE2G1:ubiquitin conjugating enzyme E2 G1 [Gene - OMIM - HGNC]
  • ZZEF1:zinc finger ZZ-type and EF-hand domain containing 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
GRCh38/hg38 17p13.2(chr17:4141725-4472701)x3
HGVS:
  • NC_000017.11:g.(?_4141725)_(4472701_?)dup
  • NC_000017.10:g.(?_4045019)_(4375996_?)dup
  • NC_000017.9:g.(?_3991768)_(4322745_?)dup
Links:
dbVar: nssv580930; dbVar: nsv532642
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
SCV000081337GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Uncertain significance
(Aug 12, 2011) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000081337.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023