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NM_206933.4(USH2A):c.10836C>A (p.Val3612=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 16, 2021)
Last evaluated:
Dec 6, 2020
Accession:
VCV000048359.9
Variation ID:
48359
Description:
single nucleotide variant
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NM_206933.4(USH2A):c.10836C>A (p.Val3612=)

Allele ID
57521
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 215779946 (GRCh38) GRCh38 UCSC
1: 215953288 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.215953288G>T
NC_000001.11:g.215779946G>T
NG_009497.1:g.648451C>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:215779945:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.03055 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.03161
The Genome Aggregation Database (gnomAD) 0.02977
Trans-Omics for Precision Medicine (TOPMed) 0.03014
1000 Genomes Project 0.03055
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.03275
The Genome Aggregation Database (gnomAD), exomes 0.00717
Exome Aggregation Consortium (ExAC) 0.00876
The Genome Aggregation Database (gnomAD) 0.02748
Links
ClinGen: CA143233
dbSNP: rs61276761
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Sep 15, 2014 RCV000041680.3
Benign 3 criteria provided, multiple submitters, no conflicts Dec 6, 2020 RCV000955867.6
Benign 1 no assertion criteria provided Sep 16, 2020 RCV001273695.1
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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

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Feb 11, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001146594.1
Submitted: (Sep 25, 2019)
Evidence details
Benign
(Dec 06, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001102600.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Sep 15, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000231377.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001883817.1
Submitted: (Sep 16, 2021)
Evidence details
Benign
(Dec 14, 2010)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000065376.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Val3612Val in exon 55 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, … (more)
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 2A
Allele origin: germline
Natera, Inc.
Accession: SCV001457061.1
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=USH2A - - - -

Text-mined citations for rs61276761...

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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