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GRCh38/hg38 17p13.2(chr17:3543809-3658724)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:
RCV000050798.6

Allele description [Variation Report for GRCh38/hg38 17p13.2(chr17:3543809-3658724)x3]

GRCh38/hg38 17p13.2(chr17:3543809-3658724)x3

Genes:
  • LOC130059977:ATAC-STARR-seq lymphoblastoid active region 11509 [Gene]
  • LOC130059978:ATAC-STARR-seq lymphoblastoid active region 11510 [Gene]
  • LOC130059980:ATAC-STARR-seq lymphoblastoid active region 11511 [Gene]
  • LOC130059976:ATAC-STARR-seq lymphoblastoid silent region 8013 [Gene]
  • LOC130059979:ATAC-STARR-seq lymphoblastoid silent region 8014 [Gene]
  • LOC130059981:ATAC-STARR-seq lymphoblastoid silent region 8015 [Gene]
  • LOC126862463:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:3478292-3479491 [Gene]
  • CTNS-AS1:CTNS antisense RNA 1 [Gene - HGNC]
  • LOC126862464:MED14-independent group 3 enhancer GRCh37_chr17:3526895-3528094 [Gene]
  • CTNS:cystinosin, lysosomal cystine transporter [Gene - OMIM - HGNC]
  • SHPK:sedoheptulokinase [Gene - OMIM - HGNC]
  • TRPV1:transient receptor potential cation channel subfamily V member 1 [Gene - OMIM - HGNC]
  • TRPV3:transient receptor potential cation channel subfamily V member 3 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
GRCh38/hg38 17p13.2(chr17:3543809-3658724)x3
HGVS:
  • NC_000017.11:g.(?_3543809)_(3658724_?)dup
  • NC_000017.10:g.(?_3447103)_(3562018_?)dup
  • NC_000017.9:g.(?_3393853)_(3508767_?)dup
Links:
dbVar: nssv580929; dbVar: nsv529393
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
SCV000078131ISCA site 4

See additional submitters

criteria provided, single submitter

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

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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 ISCA site 4, SCV000078131.5

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

Last Updated: May 7, 2024