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GRCh37/hg19 17p13.3(chr17:525-1464281)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1
First in ClinVar:
Sep 3, 2022
Most recent Submission:
Sep 3, 2022
Accession:
VCV001703618.1
Variation ID:
1703618
Description:
copy number loss
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GRCh37/hg19 17p13.3(chr17:525-1464281)

Allele ID
1696009
Variant type
copy number loss
Variant length
-
Cytogenetic location
17p13.3
Genomic location
17: 525-1464281 (GRCh37) GRCh37 UCSC
HGVS
-
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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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 - RCV002280706.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ABR No evidence available No evidence available GRCh38
GRCh38
GRCh38
GRCh37 		56 180
PITPNA No evidence available No evidence available GRCh38
GRCh37 		1 103
YWHAE No evidence available No evidence available GRCh38
GRCh38
GRCh37 		55 182
BHLHA9 - - GRCh38
GRCh37 		40 156
C17orf97 - - - GRCh38
GRCh38
GRCh37 		1 94
CRK - - GRCh38
GRCh38
GRCh37 		8 115
DOC2B - - GRCh38
GRCh38
GRCh37 		11 64
GEMIN4 - - GRCh38
GRCh37 		98 204
GLOD4 - - - GRCh38
GRCh37 		8 118
INPP5K - - GRCh38
GRCh37 		73 177

There are 9 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 More information
Pathogenic
(-)
 no assertion criteria provided
Method: clinical testing
 Miller Dieker syndrome
Affected status: yes
Allele origin: unknown
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
Accession: SCV002568970.1
First in ClinVar: Sep 03, 2022
Last updated: Sep 03, 2022
Clinical Features:
Specific learning disability (present) , Memory impairment (present)

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Sep 03, 2022 

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