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NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln)

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Interpretation:
Likely pathogenic​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
4 (Most recent: May 26, 2020)
Last evaluated:
May 26, 2020
Accession:
VCV000224753.3
Variation ID:
224753
Description:
single nucleotide variant
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NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln)

Allele ID
226519
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 216000442 (GRCh38) GRCh38 UCSC
1: 216173784 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_206933.3(USH2A):c.6446C>A
NC_000001.10:g.216173784G>T
NC_000001.11:g.216000442G>T
... more HGVS
Protein change
P2149Q
Other names
-
Canonical SPDI
NC_000001.11:216000441:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA354063
dbSNP: rs869312182
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 reviewed by expert panel May 26, 2020 RCV001171538.1
Likely pathogenic 1 no assertion criteria provided Aug 28, 2015 RCV000210323.2
Uncertain significance 1 no assertion criteria provided - RCV000225553.1
Likely pathogenic 1 no assertion criteria provided Jan 1, 2015 RCV000505157.1
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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
3428 4027

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 26, 2020)
reviewed by expert panel
Method: curation
Usher syndrome
(Autosomal recessive inheritance)
Allele origin: germline
ClinGen Hearing Loss Variant Curation Expert Panel
FDA Recognized Database
Accession: SCV001334323.1
Submitted: (May 26, 2020)
Evidence details
Publications
PubMed (3)
Other databases
https://erepo.clinicalgenome.org…
Comment:
The c.6446C>A (p.Pro2149Gln) variant in USH2A was absent from gnomAD (PM2). It has been detected in one patient with Usher syndrome and one patient with … (more)
Likely pathogenic
(Aug 28, 2015)
no assertion criteria provided
Method: clinical testing
Usher syndrome, type 2A
Allele origin: germline
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals
Accession: SCV000259095.1
Submitted: (Jan 21, 2016)
Evidence details
Publications
PubMed (1)
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals
Accession: SCV000282656.1
Submitted: (Apr 26, 2016)
Evidence details
Likely pathogenic
(Jan 01, 2015)
no assertion criteria provided
Method: research
Retinitis pigmentosa
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV000598820.1
Submitted: (Aug 18, 2017)
Evidence details
Publications
PubMed (1)

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
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease. Jiman OA European journal of human genetics : EJHG 2020 PMID: 31836858
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases. Ellingford JM Journal of medical genetics 2018 PMID: 29074561
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. Carss KJ American journal of human genetics 2017 PMID: 28041643
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. Ellingford JM Ophthalmology 2016 PMID: 26872967
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/ba64373e-1f84-4b4e-9c18-a3c165795d50 - - - -

Text-mined citations for rs869312182...

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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 Oct 08, 2021