NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) AND USH2A-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 8, 2024
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV004544405.2

Allele description [Variation Report for NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)]

NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)

HGVS:

NC_000001.11:g.215640723G>A
NG_009497.2:g.787726C>T
NM_206933.4:c.14803C>TMANE SELECT
NP_996816.3:p.Arg4935Ter
NC_000001.10:g.215814065G>A
NG_009497.1:g.787674C>T
NM_206933.2:c.14803C>T
NM_206933.3:c.14803C>T
p.Arg4935X

Protein change:

R4935*

Links:

dbSNP: rs146733615

NCBI 1000 Genomes Browser:

rs146733615

Molecular consequence:

NM_206933.4:c.14803C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: USH2A-related disorder
Synonyms:: USH2A-Related Disorders; USH2A-related condition
Identifiers:: MedGen: CN239332

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004771957	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Pathogenic (Jan 8, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004771957

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Pathogenic
(Jan 8, 2024)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004771957.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The USH2A c.14803C>T variant is predicted to result in premature protein termination (p.Arg4935*). This variant has been reported many times in individuals with Usher syndrome (see for examples: Baux et al. 2007. PubMed ID: 17405132; Supplemental table, Pierrache et al. 2016. PubMed ID: 26927203; Table S2, Weisschuh et al. 2020. PubMed ID: 32531858). This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in USH2A are expected to be pathogenic. Given the evidence, we interpret this variant as pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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