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NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Aug 17, 2021)
Last evaluated:
Apr 12, 2021
Accession:
VCV000444203.12
Variation ID:
444203
Description:
single nucleotide variant
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NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)

Allele ID
437843
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 216084747 (GRCh38) GRCh38 UCSC
1: 216258089 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.216258089C>T
NC_000001.11:g.216084747C>T
NG_009497.1:g.343650G>A
... more HGVS
Protein change
W1706*
Other names
-
Canonical SPDI
NC_000001.11:216084746:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA344858879
dbSNP: rs1461319754
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Mar 1, 2017 RCV000513450.4
Likely pathogenic 1 criteria provided, single submitter Jan 25, 2018 RCV000672338.1
Likely pathogenic 1 criteria provided, single submitter Jul 27, 2018 RCV001073947.1
Likely pathogenic 1 criteria provided, single submitter Apr 12, 2021 RCV001375184.2
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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
USH2A-AS2 - - - GRCh38 - 262

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000608525.11
Submitted: (Jul 04, 2021)
Evidence details
Pathogenic
(Feb 09, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000705703.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(Jan 25, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2A
Retinitis pigmentosa 39
Allele origin: unknown
Counsyl
Accession: SCV000797435.1
Submitted: (Jul 10, 2018)
Evidence details
Likely pathogenic
(Jul 27, 2018)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001239512.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Likely pathogenic
(Apr 12, 2021)
criteria provided, single submitter
Method: clinical testing
Hearing impairment
Allele origin: germline
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center
Accession: SCV001571790.2
Submitted: (Aug 17, 2021)
Evidence details
Comment:
PVS1_Strong, PM2_Moderate

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=USH2A - - - -

Text-mined citations for rs1461319754...

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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