NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) AND Retinitis pigmentosa 39

Clinical significance:Uncertain significance (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:
RCV001376499.1

Allele description [Variation Report for NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)]

NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
HGVS:
  • NC_000001.11:g.215798944A>C
  • NC_000001.11:g.215798944A>C
  • NG_009497.1:g.629453T>G
  • NG_009497.2:g.629505T>G
  • NM_206933.4:c.9921T>GMANE SELECT
  • NP_996816.3:p.Cys3307Trp
  • NC_000001.10:g.215972286A>C
  • NC_000001.10:g.215972286A>C
  • NM_206933.2:c.9921T>G
  • NM_206933.3(USH2A):c.9921T>G
Protein change:
C3307W
Links:
dbSNP: rs1057519382
NCBI 1000 Genomes Browser:
rs1057519382
Molecular consequence:
  • NM_206933.4:c.9921T>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001573670Ocular Genomics Institute, Massachusetts Eye and Earcriteria provided, single submitter
Uncertain significance
(Apr 8, 2021)
germlineresearch

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

Bonnet C, Grati M, Marlin S, Levilliers J, Hardelin JP, Parodi M, Niasme-Grare M, Zelenika D, Délépine M, Feldmann D, Jonard L, El-Amraoui A, Weil D, Delobel B, Vincent C, Dollfus H, Eliot MM, David A, Calais C, Vigneron J, Montaut-Verient B, Bonneau D, et al.

Orphanet J Rare Dis. 2011 May 11;6:21. doi: 10.1186/1750-1172-6-21.

PubMed [citation]
PMID:
21569298
PMCID:
PMC3125325

NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

Ge Z, Bowles K, Goetz K, Scholl HP, Wang F, Wang X, Xu S, Wang K, Wang H, Chen R.

Sci Rep. 2015 Dec 15;5:18287. doi: 10.1038/srep18287.

PubMed [citation]
PMID:
26667666
PMCID:
PMC4678898
See all PubMed Citations (3)

Details of each submission

From Ocular Genomics Institute, Massachusetts Eye and Ear, SCV001573670.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (3)

Description

The USH2A c.9921T>G 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: PM2. Based on this evidence we have classified this variant as Variant of Uncertain Significance.

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

Last Updated: Oct 25, 2021

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