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.11504C>T (p.Thr3835Ile)

Help
Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jul 7, 2021)
Last evaluated:
Jul 1, 2021
Accession:
VCV000048377.6
Variation ID:
48377
Description:
single nucleotide variant
Help

NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile)

Allele ID
57539
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 215743221 (GRCh38) GRCh38 UCSC
1: 215916563 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
O75445:p.Thr3835Ile
NC_000001.10:g.215916563G>A
NC_000001.11:g.215743221G>A
... more HGVS
Protein change
T3835I
Other names
p.T3835I:ACT>ATT
Canonical SPDI
NC_000001.11:215743220:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.14457 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.18957
Exome Aggregation Consortium (ExAC) 0.19185
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.20245
1000 Genomes Project 0.14457
The Genome Aggregation Database (gnomAD), exomes 0.19146
Trans-Omics for Precision Medicine (TOPMed) 0.19147
Links
ClinGen: CA143259
UniProtKB: O75445#VAR_050088
dbSNP: rs11120616
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Aug 19, 2013 RCV000041698.4
Benign 3 criteria provided, multiple submitters, no conflicts Jul 1, 2021 RCV000986520.3
Benign 1 criteria provided, single submitter Dec 5, 2020 RCV001517697.1
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
Benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2A
Allele origin: unknown
Mendelics
Accession: SCV001135535.1
Submitted: (Oct 22, 2019)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000317187.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Aug 19, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000169760.10
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Feb 19, 2008)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000065394.6
Submitted: (Mar 21, 2019)
Evidence details
Benign
(Dec 05, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001726255.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jul 01, 2021)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2A
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001748496.1
Submitted: (Jul 07, 2021)
Evidence details
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 2A
Allele origin: germline
Natera, Inc.
Accession: SCV001451988.1
Submitted: (Dec 28, 2020)
Evidence details

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
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 rs11120616...

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