NM_206933.3(USH2A):c.11105G>A (p.Trp3702Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Sep 15, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000416074.7

Allele description [Variation Report for NM_206933.3(USH2A):c.11105G>A (p.Trp3702Ter)]

NM_206933.3(USH2A):c.11105G>A (p.Trp3702Ter)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.3(USH2A):c.11105G>A (p.Trp3702Ter)
HGVS:
  • NC_000001.11:g.215759786C>T
  • NG_009497.1:g.668611G>A
  • NM_206933.3:c.11105G>A
  • NP_996816.2:p.Trp3702Ter
  • NC_000001.10:g.215933128C>T
  • NM_206933.2:c.11105G>A
Protein change:
W3702*
Links:
dbSNP: rs1057519193
NCBI 1000 Genomes Browser:
rs1057519193
Molecular consequence:
  • NM_206933.3:c.11105G>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000493540CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Feb 1, 2020)
germlineclinical testing

Citation Link,

SCV001586257Invitaecriteria provided, single submitter
Pathogenic
(Sep 28, 2020)
germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

SCV001905661Institute of Medical Genetics and Applied Genomics, University Hospital Tübingencriteria provided, single submitter
Pathogenic
(Sep 15, 2021)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot provided1not providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J.

Eur J Hum Genet. 2014 Jan;22(1):99-104. doi: 10.1038/ejhg.2013.72. Epub 2013 Apr 17.

PubMed [citation]
PMID:
23591405
PMCID:
PMC3865404

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 (8)

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV000493540.13

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

From Invitae, SCV001586257.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

This sequence change creates a premature translational stop signal (p.Trp3702*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Usher syndrome or retinitis pigmentosa (PMID: 23591405, 26667666). ClinVar contains an entry for this variant (Variation ID: 374674). Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). For these reasons, this variant has been classified as Pathogenic.

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

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001905661.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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