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NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Aug 10, 2021)
Last evaluated:
Dec 10, 2020
Accession:
VCV000048361.10
Variation ID:
48361
Description:
single nucleotide variant
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NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val)

Allele ID
57523
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 215779924 (GRCh38) GRCh38 UCSC
1: 215953266 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.215953266T>C
NC_000001.11:g.215779924T>C
NG_009497.1:g.648473A>G
... more HGVS
Protein change
I3620V
Other names
-
Canonical SPDI
NC_000001.11:215779923:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00072
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00338
1000 Genomes Project 0.00180
The Genome Aggregation Database (gnomAD) 0.00242
Trans-Omics for Precision Medicine (TOPMed) 0.00291
The Genome Aggregation Database (gnomAD), exomes 0.00055
Links
ClinGen: CA143237
dbSNP: rs145207584
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 10, 2020 RCV000972214.5
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Dec 12, 2018 RCV000041682.5
Benign 1 no assertion criteria provided May 3, 2020 RCV001274946.1
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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
Benign
(Sep 15, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000231378.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Oct 03, 2011)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000065378.6
Submitted: (Mar 21, 2019)
Evidence details
Likely benign
(Dec 12, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001160348.1
Submitted: (Aug 05, 2019)
Evidence details
Likely benign
(Nov 29, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001119911.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Dec 10, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001780280.1
Submitted: (Aug 10, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 25097241, 26969326)
Benign
(May 03, 2020)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 2A
Allele origin: germline
Natera, Inc.
Accession: SCV001459529.1
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 rs145207584...

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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