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.7068T>G (p.Asn2356Lys)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Oct 22, 2021)
Last evaluated:
Mar 24, 2021
Accession:
VCV000048576.8
Variation ID:
48576
Description:
single nucleotide variant
Help

NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)

Allele ID
57738
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 215965369 (GRCh38) GRCh38 UCSC
1: 216138711 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.216138711A>C
NC_000001.11:g.215965369A>C
NG_009497.1:g.463028T>G
... more HGVS
Protein change
N2356K
Other names
-
Canonical SPDI
NC_000001.11:215965368:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00160 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00078
Trans-Omics for Precision Medicine (TOPMed) 0.00100
1000 Genomes Project 0.00160
The Genome Aggregation Database (gnomAD) 0.00051
Trans-Omics for Precision Medicine (TOPMed) 0.00056
The Genome Aggregation Database (gnomAD), exomes 0.00078
Links
ClinGen: CA143585
dbSNP: rs200038092
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 3 criteria provided, multiple submitters, no conflicts May 28, 2019 RCV000490376.3
Benign 1 criteria provided, single submitter Sep 4, 2017 RCV000041902.3
Uncertain significance 1 criteria provided, single submitter Dec 20, 2017 RCV000671627.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Mar 24, 2021 RCV000924303.4
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
(Sep 04, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000065598.6
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (5)
Uncertain significance
(Mar 18, 2016)
criteria provided, single submitter
Method: reference population
Usher syndrome, type 2A
Allele origin: germline
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center
Accession: SCV000267556.1
Submitted: (Apr 14, 2016)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Dec 20, 2017)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2A
Retinitis pigmentosa 39
Allele origin: unknown
Counsyl
Accession: SCV000796617.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (7)
Uncertain significance
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2A
Allele origin: unknown
Mendelics
Accession: SCV001135546.1
Submitted: (Oct 22, 2019)
Evidence details
Benign
(Dec 06, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001069814.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Mar 24, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001981926.1
Submitted: (Oct 22, 2021)
Evidence details
Comment:
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30073356, … (more)
Likely benign
(Apr 03, 2020)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 2A
Allele origin: germline
Natera, Inc.
Accession: SCV001466773.1
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
Title Author Journal Year Link
Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population. Moteki H Clinical genetics 2016 PMID: 26346818
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. Huang XF Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25356976
Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations. Gu X Clinical genetics 2015 PMID: 24853665
The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients. Zhao Y Journal of human genetics 2014 PMID: 25078356
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing. Xu Y Human genetics 2014 PMID: 24938718
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. Glöckle N European journal of human genetics : EJHG 2014 PMID: 23591405
Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients. Miyagawa M PloS one 2013 PMID: 23967202

Text-mined citations for rs200038092...

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