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NM_206933.3(USH2A):c.490G>T (p.Val164Phe)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 3, 2019
Accession:
VCV000143182.4
Variation ID:
143182
Description:
single nucleotide variant
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NM_206933.3(USH2A):c.490G>T (p.Val164Phe)

Allele ID
152900
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 216418675 (GRCh38) GRCh38 UCSC
1: 216592017 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.216592017C>A
NC_000001.11:g.216418675C>A
NG_009497.1:g.9722G>T
... more HGVS
Protein change
V164F
Other names
-
Canonical SPDI
NC_000001.11:216418674:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA270157
dbSNP: rs527236123
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 Mar 26, 2019 RCV001075672.1
Likely pathogenic 1 criteria provided, single submitter Oct 3, 2019 RCV001227152.2
Likely pathogenic 1 no assertion criteria provided - RCV000132713.1
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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
(Mar 26, 2019)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001241300.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Likely pathogenic
(Oct 03, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001399494.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces valine with phenylalanine at codon 164 of the USH2A protein (p.Val164Phe). The valine residue is highly conserved and there is a … (more)
probable-pathogenic
(-)
no assertion criteria provided
Method: not provided
Retinitis pigmentosa
Allele origin: not provided
Department of Ophthalmology and Visual Sciences Kyoto University
Accession: SCV000172666.1
Submitted: (Jul 29, 2014)
Evidence details
Comment:
Converted during submission to Likely pathogenic.

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
Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population. Maeda A Japanese journal of ophthalmology 2018 PMID: 29785639
Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. Oishi M Investigative ophthalmology & visual science 2014 PMID: 25324289

Text-mined citations for rs527236123...

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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