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NM_206933.3(USH2A):c.12309del (p.Phe4103fs)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Aug 18, 2017)
Last evaluated:
Jan 1, 2015
Accession:
VCV000438006.1
Variation ID:
438006
Description:
1bp deletion
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NM_206933.3(USH2A):c.12309del (p.Phe4103fs)

Allele ID
431582
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 215675602 (GRCh38) GRCh38 UCSC
1: 215848944 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.215848944del
NC_000001.11:g.215675602del
NG_009497.1:g.752795del
NM_206933.3:c.12309del NP_996816.2:p.Phe4103fs frameshift
Protein change
F4103fs
Other names
-
Canonical SPDI
NC_000001.11:215675601:G:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA645509093
dbSNP: rs1553252528
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 1, 2015 RCV000504911.1
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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
3428 4027

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 01, 2015)
no assertion criteria provided
Method: research
Usher syndrome
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV000598773.1
Submitted: (Aug 18, 2017)
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
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. Carss KJ American journal of human genetics 2017 PMID: 28041643

Text-mined citations for rs1553252528...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021