GRCh38/hg38 13q33.1(chr13:102822081-103938370)x3 AND See cases

Clinical significance:Uncertain significance (Last evaluated: Aug 12, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000052033.5

Allele description [Variation Report for GRCh38/hg38 13q33.1(chr13:102822081-103938370)x3]

GRCh38/hg38 13q33.1(chr13:102822081-103938370)x3

Genes:
BIVM-ERCC5:BIVM-ERCC5 readthrough [Gene - HGNC]
ERCC5:ERCC excision repair 5, endonuclease [Gene - OMIM - HGNC]
BIVM:basic, immunoglobulin-like variable motif containing [Gene - HGNC]
LINC01309:long intergenic non-protein coding RNA 1309 [Gene - HGNC]
SLC10A2:solute carrier family 10 member 2 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
13q33.1
Genomic location:
Preferred name:
GRCh38/hg38 13q33.1(chr13:102822081-103938370)x3
HGVS:
  • NC_000013.11:g.(?_102822081)_(103938370_?)dup
  • NC_000013.10:g.(?_103474431)_(104590720_?)dup
  • NC_000013.9:g.(?_102272432)_(103388721_?)dup
Links:
dbVar: nssv580831; dbVar: nsv530746
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000079382ISCA site 6

See additional submitters

criteria provided, single submitter
(Submitter's publication)
Uncertain significance
(Aug 12, 2011)
not providedclinical testing

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

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations. Clinical assertions have been curated as described in Kaminsky et al. 2011.

SCV000079382

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 6, SCV000079382.5

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

Last Updated: Jun 7, 2016