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GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Sep 26, 2017)
Last evaluated:
Dec 10, 2012
Accession:
VCV000154960.1
Variation ID:
154960
Description:
3.5Mb copy number loss
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GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1

Allele ID
164714
Variant type
copy number loss
Variant length
3,542,196 bp
Cytogenetic location
17q11.2
Genomic location
17: 28947825-32490020 (GRCh38) GRCh38 UCSC
17: 27274843-30817038 (GRCh37) GRCh37 UCSC
17: 24298969-27841151 (NCBI36) NCBI36 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.(?_27274843)_(30817038_?)del
NC_000017.9:g.(?_24298969)_(27841151_?)del
NC_000017.11:g.(?_28947825)_(32490020_?)del
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbVar: nssv1604141
dbVar: nsv916909
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Dec 10, 2012 RCV000143027.3

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
Pathogenic
(Dec 10, 2012)
no assertion criteria provided
Method: clinical testing
See cases
Allele origin: de novo
ISCA site 1
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000180003.4
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)

Citations for this variant

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 Oct 27, 2019