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GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3

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Interpretation:
conflicting data from submitters​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Sep 26, 2017)
Last evaluated:
Oct 7, 2011
Accession:
VCV000033394.1
Variation ID:
33394
Description:
2.1Mb copy number gain
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GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3

Allele ID
42059
Variant type
copy number gain
Variant length
2,131,116 bp
Cytogenetic location
15q13.2-13.3
Genomic location
15: 30438310-32569425 (GRCh38) GRCh38 UCSC
15: 30730513-32861626 (GRCh37) GRCh37 UCSC
15: 28517805-30648918 (NCBI36) NCBI36 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.(?_30438310)_(32569425_?)dup
NC_000015.8:g.(?_28517805)_(30648918_?)dup
NC_000015.9:g.(?_30730513)_(32861626_?)dup
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbVar: nssv584422
dbVar: nsv498042
dbVar: nssv1415480
dbVar: nssv1495461
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
conflicting data from submitters 1 no assertion criteria provided Oct 7, 2011 RCV000050375.7

Clinical features observed in individuals with this variant

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
conflicting data from submitters
(Oct 07, 2011)
no assertion criteria provided
Method: clinical testing
See cases
Allele origin: paternal, not provided
ISCA site 1
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000174558.4
Submitted: (Sep 26, 2017)
Comments (2):
Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.
Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For … (more)
Evidence details
Publications
PubMed (1)
Comment:
Pathogenic(1), Uncertain significance(2)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Miller DT American journal of human genetics 2010 PMID: 20466091

Record last updated May 19, 2021