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NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jul 15, 2021)
Last evaluated:
Apr 21, 2020
Accession:
VCV000558124.5
Variation ID:
558124
Description:
2bp deletion
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NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)

Allele ID
540859
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
1q41
Genomic location
1: 215674703-215674704 (GRCh38) GRCh38 UCSC
1: 215848045-215848046 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.215674704_215674705del
NG_009497.1:g.753693_753694del
NG_009497.2:g.753745_753746del
... more HGVS
Protein change
G4403fs
Other names
-
Canonical SPDI
NC_000001.11:215674702:CCC:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs746447649
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter May 1, 2018 RCV000674350.1
Pathogenic 1 criteria provided, single submitter Mar 26, 2019 RCV001075673.1
Pathogenic 1 criteria provided, single submitter Apr 21, 2020 RCV001216609.2
Pathogenic 1 no assertion criteria provided - RCV001542724.1
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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
3406 4061

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 01, 2018)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2A
Retinitis pigmentosa 39
Allele origin: unknown
Counsyl
Accession: SCV000799673.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (3)
Pathogenic
(Mar 26, 2019)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001241301.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Pathogenic
(Apr 21, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001388414.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (8)
Comment:
This sequence change creates a premature translational stop signal (p.Gly4403Profs*15) in the USH2A gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Usher syndrome, type 2A
Allele origin: germline
Genomics England Pilot Project,Genomics England
Accession: SCV001760007.1
Submitted: (Jul 15, 2021)
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
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. Hartel BP Hearing research 2016 PMID: 27318125
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. Lenassi E European journal of human genetics : EJHG 2015 PMID: 25649381
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. Le Quesne Stabej P Journal of medical genetics 2012 PMID: 22135276
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
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. Dreyer B Human mutation 2008 PMID: 18273898
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Baux D Human mutation 2007 PMID: 17405132
Identification of novel USH2A mutations: implications for the structure of USH2A protein. Dreyer B European journal of human genetics : EJHG 2000 PMID: 10909849
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Weston MD American journal of human genetics 2000 PMID: 10729113

Text-mined citations for rs746447649...

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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 Nov 27, 2021