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NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Aug 19, 2021)
Last evaluated:
Mar 25, 2021
Accession:
VCV000048348.8
Variation ID:
48348
Description:
single nucleotide variant
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NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)

Allele ID
57510
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 215782873 (GRCh38) GRCh38 UCSC
1: 215956215 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.215956215G>A
NC_000001.11:g.215782873G>A
NG_009497.1:g.645524C>T
... more HGVS
Protein change
R3484*
Other names
-
Canonical SPDI
NC_000001.11:215782872:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA262056
dbSNP: rs111033379
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Dec 30, 2020 RCV000802347.5
Likely pathogenic 1 criteria provided, single submitter Mar 1, 2008 RCV000041669.2
Pathogenic 1 criteria provided, single submitter Oct 24, 2017 RCV000670189.1
Pathogenic 1 criteria provided, single submitter Mar 25, 2021 RCV001353056.1
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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
3452 4058

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 24, 2017)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2A
Retinitis pigmentosa 39
Allele origin: unknown
Counsyl
Accession: SCV000795018.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Mar 01, 2008)
criteria provided, single submitter
Method: clinical testing
Rare genetic deafness
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000065365.6
Submitted: (Mar 21, 2019)
Evidence details
Pathogenic
(Mar 25, 2021)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2A
(Autosomal recessive inheritance)
Allele origin: germline
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
Accession: SCV001548180.1
Submitted: (Mar 25, 2021)
Evidence details
Pathogenic
(Apr 11, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000942173.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (8)
Comment:
This sequence change creates a premature translational stop signal (p.Arg3484*) in the USH2A gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Dec 30, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001793585.1
Submitted: (Aug 19, 2021)
Evidence details
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (more)

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
Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations. Eandi CM Scientific reports 2017 PMID: 29142287
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. Hartel BP Hearing research 2016 PMID: 27318125
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. Lenassi E European journal of human genetics : EJHG 2015 PMID: 25649381
MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome. Sodi A Molecular vision 2014 PMID: 25558175
Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. Huang XF PloS one 2013 PMID: 23737954
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. McGee TL Journal of medical genetics 2010 PMID: 20507924
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. Dreyer B Human mutation 2008 PMID: 18273898
Identification of novel USH2A mutations: implications for the structure of USH2A protein. Dreyer B European journal of human genetics : EJHG 2000 PMID: 10909849
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Weston MD American journal of human genetics 2000 PMID: 10729113

Text-mined citations for rs111033379...

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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 Sep 24, 2021