NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter) AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Oct 2, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000488256.2

Allele description [Variation Report for NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)]

NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)
HGVS:
  • NC_000001.11:g.215878800C>T
  • NG_009497.1:g.549597G>A
  • NG_009497.2:g.549649G>A
  • NM_206933.4:c.8522G>AMANE SELECT
  • NP_996816.3:p.Trp2841Ter
  • NC_000001.10:g.216052142C>T
  • NM_206933.2:c.8522G>A
Protein change:
W2841*
Links:
dbSNP: rs1064797134
NCBI 1000 Genomes Browser:
rs1064797134
Molecular consequence:
  • NM_206933.4:c.8522G>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000574815CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely pathogenic
(Sep 30, 2016)
germlineclinical testing

Citation Link,

SCV001590414Invitaecriteria provided, single submitter
Pathogenic
(Oct 2, 2020)
germlineclinical testing

PubMed (10)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, Ephraim SS, Shibata SB, Booth KT, Campbell CA, Ranum PT, Weaver AE, Black-Ziegelbein EA, Wang D, Azaiez H, Smith RJH.

Hum Genet. 2016 Apr;135(4):441-450. doi: 10.1007/s00439-016-1648-8. Epub 2016 Mar 11.

PubMed [citation]
PMID:
26969326
PMCID:
PMC4796320

Cone Spacing Correlates With Retinal Thickness and Microperimetry in Patients With Inherited Retinal Degenerations.

Foote KG, De la Huerta I, Gustafson K, Baldwin A, Zayit-Soudry S, Rinella N, Porco TC, Roorda A, Duncan JL.

Invest Ophthalmol Vis Sci. 2019 Mar 1;60(4):1234-1243. doi: 10.1167/iovs.18-25688.

PubMed [citation]
PMID:
30924848
PMCID:
PMC6440525
See all PubMed Citations (10)

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV000574815.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Invitae, SCV001590414.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (10)

Description

This sequence change creates a premature translational stop signal (p.Trp2841*) 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 and retinitis pigmentosa (PMID: 26969326, 30924848, 28559085, 27460420, 27353947). ClinVar contains an entry for this variant (Variation ID: 424934). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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

Last Updated: Nov 27, 2021

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