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NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Dec 30, 2020)
Last evaluated:
Jul 8, 2020
Accession:
VCV000048543.3
Variation ID:
48543
Description:
single nucleotide variant
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NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter)

Allele ID
57705
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 216072958 (GRCh38) GRCh38 UCSC
1: 216246300 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.216246300G>A
NC_000001.11:g.216072958G>A
NG_009497.1:g.355439C>T
... more HGVS
Protein change
R1930*
Other names
-
Canonical SPDI
NC_000001.11:216072957:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00000
Links
ClinGen: CA262107
dbSNP: rs397518021
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Apr 13, 2010 RCV000041869.2
Likely pathogenic 1 criteria provided, single submitter Aug 15, 2017 RCV000668739.1
Pathogenic 1 criteria provided, single submitter Jul 8, 2020 RCV001289411.1
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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
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
(Aug 15, 2017)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2A
Retinitis pigmentosa 39
Allele origin: unknown
Counsyl
Accession: SCV000793389.1
Submitted: (Jul 10, 2018)
Evidence details
Pathogenic
(Jul 08, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001477200.1
Submitted: (Dec 30, 2020)
Evidence details
Comment:
The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one … (more)
Pathogenic
(Apr 13, 2010)
criteria provided, single submitter
Method: clinical testing
Rare genetic deafness
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000065565.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The Arg1930X variant has not been reported in the literature nor previously iden tified by our laboratory. The Arg1930X variant leads to a premature stop … (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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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 rs397518021...

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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