NM_206933.3(USH2A):c.100C>T (p.Arg34Ter) AND Retinitis pigmentosa 39

Clinical significance:Likely pathogenic (Last evaluated: Apr 8, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001376313.1

Allele description [Variation Report for NM_206933.3(USH2A):c.100C>T (p.Arg34Ter)]

NM_206933.3(USH2A):c.100C>T (p.Arg34Ter)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.3(USH2A):c.100C>T (p.Arg34Ter)
HGVS:
  • NC_000001.11:g.216422237G>A
  • NG_009497.1:g.6160C>T
  • NM_007123.5:c.100C>T
  • NM_206933.3:c.100C>T
  • NP_009054.5:p.Arg34Ter
  • NP_996816.2:p.Arg34Ter
  • NC_000001.10:g.216595579G>A
  • NM_206933.2:c.100C>T
Protein change:
R34*
Links:
dbSNP: rs772808534
NCBI 1000 Genomes Browser:
rs772808534
Molecular consequence:
  • NM_007123.5:c.100C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_206933.3:c.100C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Retinitis pigmentosa 39 (RP39)
Identifiers:
MONDO: MONDO:0013436; MedGen: C3151138; Orphanet: 791; OMIM: 613809

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001573415Ocular Genomics Institute, Massachusetts Eye and Earcriteria provided, single submitter
Likely pathogenic
(Apr 8, 2021)
germlineresearch

PubMed (13)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller C, Smith RJ, Sumegi J, Kimberling WJ.

Am J Hum Genet. 2000 Apr;66(4):1199-210. Epub 2000 Mar 22. Erratum in: Am J Hum Genet 2000 Jun;66(6):2020. Greenburg J [corrected to Greenberg J].

PubMed [citation]
PMID:
10729113
PMCID:
PMC1288187
See all PubMed Citations (13)

Details of each submission

From Ocular Genomics Institute, Massachusetts Eye and Ear, SCV001573415.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (13)

Description

The USH2A c.100C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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