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.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)

Help
Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Apr 26, 2021)
Last evaluated:
Apr 8, 2021
Accession:
VCV000438013.6
Variation ID:
438013
Description:
13bp indel
Help

NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)

Allele ID
431575
Variant type
Indel
Variant length
13 bp
Cytogenetic location
1q41
Genomic location
1: 215674564-215674576 (GRCh38) GRCh38 UCSC
1: 215847906-215847918 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.215847906_215847918delinsCAAG
NC_000001.11:g.215674564_215674576delinsCAAG
NG_009497.1:g.753821_753833delinsCTTG
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:215674563:AGAGTCCATGTTC:CAAG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA645509092
dbSNP: rs1553252388
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 Feb 5, 2018 RCV000599475.1
Pathogenic 1 criteria provided, single submitter May 17, 2019 RCV001074750.1
Likely pathogenic 1 criteria provided, single submitter Jan 1, 2016 RCV001197198.1
Likely pathogenic 1 criteria provided, single submitter Apr 8, 2021 RCV001376291.1
Likely pathogenic 2 no assertion criteria provided Apr 1, 2018 RCV000504662.2
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
Likely pathogenic
(Feb 05, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000709857.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
The c.13335_13347del13insCTTG variant in the USH2A gene has been reported previously in association with nonsyndromic retinitis pigmentosa (McGee et al., 2010). The c.13335_13347del13insCTTG variant causes … (more)
Pathogenic
(May 17, 2019)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001240345.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Likely pathogenic
(Jan 01, 2016)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2A
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV001367834.2
Submitted: (Nov 24, 2020)
Evidence details
Comment:
This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2.
Likely pathogenic
(Apr 08, 2021)
criteria provided, single submitter
Method: research
Retinitis pigmentosa 39
Allele origin: germline
Ocular Genomics Institute, Massachusetts Eye and Ear
Accession: SCV001573381.1
Submitted: (Apr 26, 2021)
Evidence details
Publications
PubMed (3)
Comment:
The USH2A c.13335_13347delinsCTTG variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we … (more)
Likely pathogenic
(Jan 01, 2015)
no assertion criteria provided
Method: research
Retinitis pigmentosa
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV000598786.1
Submitted: (Aug 18, 2017)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Apr 01, 2018)
no assertion criteria provided
Method: research
Retinitis pigmentosa
Allele origin: unknown
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet
Study: VeluxRD
Accession: SCV000926721.1
Submitted: (Dec 05, 2018)
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
Characterisation of microvascular abnormalities using OCT angiography in patients with biallelic variants in <i>USH2A</i> and <i>MYO7A</i>. Hagag AM The British journal of ophthalmology 2020 PMID: 31266775
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. Jespersgaard C Scientific reports 2019 PMID: 30718709
Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies. Wang X BMC ophthalmology 2017 PMID: 28838317
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
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. McGee TL Journal of medical genetics 2010 PMID: 20507924

Text-mined citations for rs1553252388...

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