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GRCh38/hg38 5q23.1(chr5:116732695-118380159)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:
RCV000053290.5

Allele description [Variation Report for GRCh38/hg38 5q23.1(chr5:116732695-118380159)x3]

GRCh38/hg38 5q23.1(chr5:116732695-118380159)x3

Genes:
  • LOC129994417:ATAC-STARR-seq lymphoblastoid active region 22950 [Gene]
  • LOC129994418:ATAC-STARR-seq lymphoblastoid active region 22951 [Gene]
  • LOC129994419:ATAC-STARR-seq lymphoblastoid active region 22952 [Gene]
  • LOC129994420:ATAC-STARR-seq lymphoblastoid active region 22953 [Gene]
  • LOC129994421:ATAC-STARR-seq lymphoblastoid active region 22954 [Gene]
  • LOC129994422:ATAC-STARR-seq lymphoblastoid active region 22955 [Gene]
  • LOC129994423:ATAC-STARR-seq lymphoblastoid active region 22956 [Gene]
  • LOC126807487:BRD4-independent group 4 enhancer GRCh37_chr5:116277759-116278958 [Gene]
  • LOC129389350:MPRA-validated peak5430 silencer [Gene]
  • LINC02147:long intergenic non-protein coding RNA 2147 [Gene - HGNC]
  • LINC02148:long intergenic non-protein coding RNA 2148 [Gene - HGNC]
  • LINC02208:long intergenic non-protein coding RNA 2208 [Gene - HGNC]
  • LINC02214:long intergenic non-protein coding RNA 2214 [Gene - HGNC]
  • LINC00992:long intergenic non-protein coding RNA 992 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
5q23.1
Genomic location:
Preferred name:
GRCh38/hg38 5q23.1(chr5:116732695-118380159)x3
HGVS:
  • NC_000005.10:g.(?_116732695)_(118380159_?)dup
  • NC_000005.8:g.(?_116096290)_(117743753_?)dup
  • NC_000005.9:g.(?_116068391)_(117715854_?)dup
Links:
dbVar: nssv581205; dbVar: nsv531971
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
SCV000080648ISCA site 17

See additional submitters

criteria provided, single submitter

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

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 17, SCV000080648.4

#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