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GRCh37/hg19 17q12(chr17:34822465-36410559)x3

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Sep 26, 2017)
Last evaluated:
Dec 2, 2014
Accession:
VCV000441910.1
Variation ID:
441910
Description:
copy number gain
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GRCh37/hg19 17q12(chr17:34822465-36410559)x3

Allele ID
435572
Variant type
copy number gain
Variant length
-
Cytogenetic location
17q12
Genomic location
17: 34822465-36410559 (GRCh37) GRCh37 UCSC
HGVS
-
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbVar: nssv13653902
dbVar: nsv2770307
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 Dec 2, 2014 RCV000511856.1

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
403 523
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
MRM1 - - GRCh38
GRCh38
GRCh37
- 117

There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) 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
(Dec 02, 2014)
no assertion criteria provided
Method: clinical testing
See cases
Allele origin: not provided
ISCA site 1
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000584585.1
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 Nov 26, 2020