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

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Apr 27, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000132710.8

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:: Retinitis pigmentosa (RP)
Synonyms:: Tapetoretinal degeneration
Identifiers:: MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

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
SCV000172663	Department of Ophthalmology and Visual Sciences Kyoto University	no assertion criteria provided	pathogenic	not provided	not provided
SCV000598803	NIHR Bioresource Rare Diseases, University of Cambridge	no assertion criteria provided	Uncertain significance (Jan 1, 2015)	unknown	research	PubMed (2) [See all records that cite these PMIDs] 21686329, 28041643
SCV001255333	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 27, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25078356, 21686329 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000172663

Department of Ophthalmology and Visual Sciences Kyoto University

no assertion criteria provided

pathogenic

not provided

SCV000598803

NIHR Bioresource Rare Diseases, University of Cambridge

no assertion criteria provided

Uncertain significance
(Jan 1, 2015)

unknown

research

PubMed (2)
[See all records that cite these PMIDs]

SCV001255333

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 27, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
East Asian	unknown	yes	2	not provided	not provided	2	not provided	research

Citations

PubMed

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, et al.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

PubMed [citation]

PMID:: 28041643
PMCID:: PMC5223092

The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.

Zhao Y, Hosono K, Suto K, Ishigami C, Arai Y, Hikoya A, Hirami Y, Ohtsubo M, Ueno S, Terasaki H, Sato M, Nakanishi H, Endo S, Mizuta K, Mineta H, Kondo M, Takahashi M, Minoshima S, Hotta Y.

J Hum Genet. 2014 Sep;59(9):521-8. doi: 10.1038/jhg.2014.65. Epub 2014 Jul 31.

PubMed [citation]

PMID:: 25078356

See all PubMed Citations (3)

Details of each submission

From Department of Ophthalmology and Visual Sciences Kyoto University, SCV000172663.1

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

Description

Converted during submission to Pathogenic.

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

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV000598803.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	East Asian	1	not provided	not provided	research	PubMed (2)
2	East Asian	1	not provided	not provided	research	PubMed (2)

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

From Illumina Laboratory Services, Illumina, SCV001255333.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#	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: May 12, 2024

ClinVar

Relating variation to medicine