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

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jan 1, 2015
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:
RCV000132710.10

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000172663Department of Ophthalmology and Visual Sciences Kyoto University
no assertion criteria provided
pathogenicnot providednot provided

SCV000598803NIHR Bioresource Rare Diseases, University of Cambridge
no assertion criteria provided
Uncertain significance
(Jan 1, 2015) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only
East Asianunknownyes2not providednot provided2not providedresearch

Citations

PubMed

Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.

Xu W, Dai H, Lu T, Zhang X, Dong B, Li Y.

Mol Vis. 2011;17:1537-52. Epub 2011 Jun 9.

PubMed [citation]
PMID:
21686329
PMCID:
PMC3115748

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

Details of each submission

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian1not providednot providedresearch PubMed (2)
2East Asian1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided
2unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024