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NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jun 25, 2019)
Last evaluated:
Jun 23, 2017
Accession:
VCV000552628.2
Variation ID:
552628
Description:
single nucleotide variant
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NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter)

Allele ID
540912
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 215648686 (GRCh38) GRCh38 UCSC
1: 215822028 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.215822028G>T
NC_000001.11:g.215648686G>T
NG_009497.1:g.779711C>A
... more HGVS
Protein change
C4808*
Other names
-
Canonical SPDI
NC_000001.11:215648685:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1553250184
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 criteria provided, single submitter Jun 23, 2017 RCV000667924.1
Pathogenic 1 no assertion criteria provided Jun 23, 2019 RCV001003251.1
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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

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 23, 2017)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2A
Retinitis pigmentosa 39
Allele origin: unknown
Counsyl
Accession: SCV000792449.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(Jun 23, 2019)
no assertion criteria provided
Method: research
Usher syndrome type 2
Allele origin: inherited
Sharon lab,Hadassah-Hebrew University Medical Center
Accession: SCV001161331.1
Submitted: (Jun 25, 2019)
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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Title Author Journal Year Link
Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing. Reddy R PloS one 2014 PMID: 25211151

Text-mined citations for rs1553250184...

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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 Nov 27, 2021