Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 30, 2020
Accession:
VCV000813344.2
Variation ID:
813344
Description:
single nucleotide variant
Help

NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter)

Allele ID
801590
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 215728342 (GRCh38) GRCh38 UCSC
1: 215901684 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.215901684C>T
NC_000001.11:g.215728342C>T
NG_009497.1:g.700055G>A
... more HGVS
Protein change
W3918*
Other names
-
Canonical SPDI
NC_000001.11:215728341:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD) 0.00001
Links
dbSNP: rs1358947010
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter - RCV001004144.1
Pathogenic 1 criteria provided, single submitter Jul 30, 2020 RCV001383730.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2A
Allele origin: germline
Baylor Genetics
Accession: SCV001162878.1
Submitted: (Sep 27, 2019)
Evidence details
Pathogenic
(Jul 30, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001582983.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (7)
Comment:
This sequence change creates a premature translational stop signal (p.Trp3918*) in the USH2A gene. It is expected to result in an absent or disrupted protein … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies. Ezquerra-Inchausti M Scientific reports 2018 PMID: 30337596
Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study. Wang L Genes 2018 PMID: 30029497
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
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. Baux D Human mutation 2014 PMID: 24944099
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
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 rs1358947010...

Help
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