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NM_206933.4(USH2A):c.8778G>T (p.Glu2926Asp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Dec 28, 2020)
Last evaluated:
Jun 2, 2017
Accession:
VCV000618474.4
Variation ID:
618474
Description:
single nucleotide variant
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NM_206933.4(USH2A):c.8778G>T (p.Glu2926Asp)

Allele ID
609373
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 215867074 (GRCh38) GRCh38 UCSC
1: 216040416 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_206933.3:c.8778G>T NP_996816.2:p.Glu2926Asp missense
NC_000001.10:g.216040416C>A
NC_000001.11:g.215867074C>A
... more HGVS
Protein change
E2926D
Other names
-
Canonical SPDI
NC_000001.11:215867073:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
-
Links
dbSNP: rs374146074
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 2, 2017 RCV000756887.3
Uncertain significance 1 no assertion criteria provided Sep 16, 2020 RCV001273710.1
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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
Uncertain significance
(Jun 02, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000884855.1
Submitted: (Oct 10, 2018)
Evidence details
Comment:
The USH2A c.8778G>T;p.Glu2926Asp variant has not been described in the medical literature, in gene-specific databases, or in the ClinVar database. The variant is listed in … (more)
Uncertain significance
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 2A
Allele origin: germline
Natera, Inc.
Accession: SCV001457080.1
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 rs374146074...

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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 11, 2021