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NM_206933.3(USH2A):c.1481A>G (p.Tyr494Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Nov 17, 2017
Accession:
VCV000555113.1
Variation ID:
555113
Description:
single nucleotide variant
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NM_206933.3(USH2A):c.1481A>G (p.Tyr494Cys)

Allele ID
541097
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 216323543 (GRCh38) GRCh38 UCSC
1: 216496885 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.216496885T>C
NC_000001.11:g.216323543T>C
NM_007123.5:c.1481A>G NP_009054.5:p.Tyr494Cys missense
... more HGVS
Protein change
Y494C
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs898430789
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Nov 17, 2017 RCV000670864.1
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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
1558 1687

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 17, 2017)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2A
Retinitis pigmentosa 39
Allele origin: unknown
Counsyl
Accession: SCV000795776.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing. Bernardis I BioMed research international 2016 PMID: 28127548

Record last updated Oct 27, 2019