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GRCh37/hg19 17q12(chr17:34822465-36283612)x3

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Sep 26, 2017)
Last evaluated:
Jan 21, 2015
Accession:
VCV000155596.1
Variation ID:
155596
Description:
copy number gain
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GRCh37/hg19 17q12(chr17:34822465-36283612)x3

Allele ID
165350
Variant type
copy number gain
Variant length
-
Cytogenetic location
17q12
Genomic location
17: 801047-2162677 (GRCh38) GRCh38 UCSC
17: 34822465-36283612 (GRCh37) GRCh37 UCSC
17: 31896578-33337163 (NCBI36) NCBI36 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.(?_34822465)_(36283612_?)dup
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbVar: nssv13642256
dbVar: nssv3395198
dbVar: nsv995953
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Jan 21, 2015 RCV000143663.4

Clinical features observed in individuals with this variant

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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HNF1B Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
399 519
AATF - - GRCh38
GRCh38
GRCh37
- 119
ACACA - - GRCh38
GRCh38
GRCh37
19 141
C17orf78 - - - GRCh38
GRCh38
GRCh37
- 121
DDX52 - - GRCh38
GRCh38
GRCh37
1 119
DHRS11 - - GRCh38
GRCh38
GRCh37
- 117
DUSP14 - - GRCh38
GRCh38
GRCh37
- 118
GGNBP2 - - GRCh38
GRCh38
GRCh37
- 124
LHX1 - - GRCh38
GRCh38
GRCh37
- 119
LHX1-DT - - - GRCh38
GRCh38
- 42

There are 8 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 21, 2015)
no assertion criteria provided
Method: clinical testing
See cases
Allele origin: de novo, not provided
ISCA site 1
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000183382.4
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)

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 Aug 20, 2020