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NM_206933.4(USH2A):c.1419C>T (p.Thr473=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Jul 14, 2021)
Last evaluated:
Jul 1, 2021
Accession:
VCV000048431.6
Variation ID:
48431
Description:
single nucleotide variant
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NM_206933.4(USH2A):c.1419C>T (p.Thr473=)

Allele ID
57593
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 216323605 (GRCh38) GRCh38 UCSC
1: 216496947 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.216496947G>A
NC_000001.11:g.216323605G>A
NG_009497.1:g.104792C>T
... more HGVS
Protein change
-
Other names
p.T473T:ACC>ACT
Canonical SPDI
NC_000001.11:216323604:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.26298 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.25207
The Genome Aggregation Database (gnomAD) 0.28143
Trans-Omics for Precision Medicine (TOPMed) 0.28889
Trans-Omics for Precision Medicine (TOPMed) 0.28123
The Genome Aggregation Database (gnomAD), exomes 0.24989
1000 Genomes Project 0.26298
The Genome Aggregation Database (gnomAD) 0.27068
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.29548
Links
ClinGen: CA143340
dbSNP: rs1805050
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Jul 5, 2011 RCV000041754.4
Benign 3 criteria provided, multiple submitters, no conflicts Jul 1, 2021 RCV000349320.4
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000296291.2
Benign 1 criteria provided, single submitter Nov 25, 2020 RCV001515003.1
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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
Benign
(Feb 19, 2008)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000065450.6
Submitted: (Mar 21, 2019)
Evidence details
Benign
(Nov 25, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001722984.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000317194.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jul 05, 2011)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000169732.10
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2A
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000354167.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Retinitis pigmentosa
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000354166.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jul 01, 2021)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2A
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001750423.1
Submitted: (Jul 14, 2021)
Evidence details
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 2A
Allele origin: germline
Natera, Inc.
Accession: SCV001452259.1
Submitted: (Dec 28, 2020)
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.

Text-mined citations for rs1805050...

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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 Dec 04, 2021