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.3158-6A>G

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Mar 21, 2019)
Last evaluated:
Jun 21, 2018
Accession:
VCV000048497.2
Variation ID:
48497
Description:
single nucleotide variant
Help

NM_206933.4(USH2A):c.3158-6A>G

Allele ID
57659
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 216207437 (GRCh38) GRCh38 UCSC
1: 216380779 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.216380779T>C
NC_000001.11:g.216207437T>C
NM_206933.4:c.3158-6A>G MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:216207436:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA143458
dbSNP: rs397518010
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jun 21, 2018 RCV000041823.3
Likely pathogenic 1 no assertion criteria provided Jan 1, 2015 RCV000505082.1
Help
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
USH2A-AS1 - - - GRCh38 - 334

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 21, 2018)
criteria provided, single submitter
Method: clinical testing
Rare genetic deafness
(Autosomal recessive inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000065519.6
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (1)
Comment:
The c.3158-6A>G variant in USH2A has been reported in two individuals with Usher syndrome who were each compound heterozygous with another truncating variant in USH2A … (more)
Likely pathogenic
(Jan 01, 2015)
no assertion criteria provided
Method: research
Usher syndrome
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV000598805.1
Submitted: (Aug 18, 2017)
Evidence details
Publications
PubMed (1)

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 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

Text-mined citations for rs397518010...

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 Jul 07, 2021