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NM_206933.2(USH2A):c.(4758+1_4759-1)_(5298+1_5299-1)del

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Sep 14, 2016)
Last evaluated:
Sep 1, 2016
Accession:
VCV000565300.1
Variation ID:
565300
Description:
5.7kb deletion
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NM_206933.2(USH2A):c.(4758+1_4759-1)_(5298+1_5299-1)del

Allele ID
551620
Variant type
Deletion
Variant length
5,686 bp
Cytogenetic location
1q41
Genomic location
1: 216078363-216097082 (GRCh38) GRCh38 UCSC
1: 216251705-216270424 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NG_009497.1:g.(331315_339257)_(344942_350034)del
NC_000001.10:g.(216251705_216256797)_(216262482_216270424)del
NC_000001.11:g.(216078363_216083455)_(216089140_216097082)del
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 Sep 1, 2016 RCV000678636.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
USH2A - - GRCh38
GRCh37
3406 4061
USH2A-AS2 - - - GRCh38 - 262

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 01, 2016)
no assertion criteria provided
Method: clinical testing
Retinitis pigmentosa 39
Allele origin: inherited
Human Genetics - Radboudumc,Radboudumc
Accession: SCV000804724.2
Submitted: (Sep 14, 2016)
Evidence details

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 Nov 27, 2021