NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) AND Retinal dystrophy

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Oct 1, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001074347.4

Allele description [Variation Report for NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)]

NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)

Genes:

LOC122152296:Sharpr-MPRA regulatory region 8762 [Gene]
USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)

HGVS:

NC_000001.11:g.216246592A>C
NG_009497.2:g.181857T>G
NG_076570.2:g.210A>C
NM_007123.6:c.2802T>G
NM_206933.4:c.2802T>GMANE SELECT
NP_009054.5:p.Cys934Trp
NP_009054.6:p.Cys934Trp
NP_996816.2:p.Cys934Trp
NP_996816.3:p.Cys934Trp
NC_000001.10:g.216419934A>C
NM_007123.5:c.2802T>G
NM_206933.2:c.2802T>G
NM_206933.3:c.2802T>G
O75445:p.Cys934Trp

Protein change:

C934W; CYS934TRP

Links:

UniProtKB: O75445#VAR_072000; OMIM: 608400.0016; dbSNP: rs201527662

NCBI 1000 Genomes Browser:

rs201527662

Molecular consequence:

NM_007123.6:c.2802T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_206933.4:c.2802T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinal dystrophy
Synonyms:: Inherited retinal dystrophy
Identifiers:: MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001239922	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Pathogenic (Jul 16, 2019)	germline	clinical testing	Citation Link,
SCV004708027	Dept Of Ophthalmology, Nagoya University	criteria provided, single submitter (Submitter's publication)	Pathogenic (Oct 1, 2023)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001239922

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Pathogenic
(Jul 16, 2019)

germline

clinical testing

Citation Link,

SCV004708027

Dept Of Ophthalmology, Nagoya University

criteria provided, single submitter

(Submitter's publication)

Pathogenic
(Oct 1, 2023)

germline

research

Help

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001239922.1

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

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

From Dept Of Ophthalmology, Nagoya University, SCV004708027.1

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

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

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine