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NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Feb 20, 2020)
Last evaluated:
Oct 31, 2018
Accession:
VCV000156393.2
Variation ID:
156393
Description:
single nucleotide variant
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NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala)

Allele ID
166173
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 216246980 (GRCh38) GRCh38 UCSC
1: 216420322 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.216420322C>G
NC_000001.11:g.216246980C>G
NG_009497.1:g.181417G>C
... more HGVS
Protein change
G805A
Other names
-
Canonical SPDI
NC_000001.11:216246979:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Exome Aggregation Consortium (ExAC) 0.00007
The Genome Aggregation Database (gnomAD), exomes 0.00009
Links
ClinGen: CA270788
dbSNP: rs587783023
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Oct 31, 2018 RCV000665419.2
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001101006.1
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001100751.1
Uncertain significance 1 no assertion criteria provided Sep 18, 2014 RCV000144475.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LOC122152296 - - - GRCh38 - 63
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
Uncertain significance
(Feb 09, 2017)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2A
Retinitis pigmentosa 39
Allele origin: unknown
Counsyl
Accession: SCV000789539.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (2)
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2A
Retinitis pigmentosa 39
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000896273.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2A
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001257287.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Retinitis pigmentosa
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001257561.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(Sep 18, 2014)
no assertion criteria provided
Method: clinical testing
Leber congenital amaurosis
Allele origin: unknown
Molecular Diagnostics Laboratory,Seoul National University Hospital
Accession: SCV000189610.1
Submitted: (Sep 19, 2014)
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
Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not? Kim SY Medicine 2016 PMID: 27057829
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity. Seong MW The Journal of molecular diagnostics : JMD 2015 PMID: 25445212

Text-mined citations for rs587783023...

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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 Dec 04, 2021