Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

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

Help
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
Help

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
Help

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
Help
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
60 185
PITPNA No evidence available No evidence available GRCh38
GRCh37
2 105
YWHAE No evidence available No evidence available GRCh38
GRCh38
GRCh37
55 182
BHLHA9 - - GRCh38
GRCh37
45 161
C17orf97 - - - GRCh38
GRCh38
GRCh37
1 43
CRK - - GRCh38
GRCh38
GRCh37
9 116
DOC2B - - GRCh38
GRCh38
GRCh37
11 65
GEMIN4 - - GRCh38
GRCh37
105 212
GLOD4 - - - GRCh38
GRCh37
8 119
INPP5K - - GRCh38
GRCh37
73 178

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

Help
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

Help
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

Help
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