NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Dec 14, 2019)

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:
RCV001057761.5

Allele description [Variation Report for NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter)]

NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter)
Other names:
NM_206933.2(USH2A):c.11241C>A(p.Tyr3747Ter); NM_206933.2(USH2A):c.11241C>A
HGVS:
  • NC_000001.11:g.215758743G>T
  • NG_009497.1:g.669654C>A
  • NG_009497.2:g.669706C>A
  • NM_206933.4:c.11241C>AMANE SELECT
  • NP_996816.2:p.Tyr3747Ter
  • NP_996816.3:p.Tyr3747Ter
  • NC_000001.10:g.215932085G>T
  • NM_206933.2:c.11241C>A
  • NM_206933.3:c.11241C>A
  • p.Tyr3747X
Protein change:
Y3747*
Links:
dbSNP: rs777465132
NCBI 1000 Genomes Browser:
rs777465132
Molecular consequence:
  • NM_206933.4:c.11241C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001222271Invitaecriteria provided, single submitter
Pathogenic
(Dec 14, 2019)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

SCV001803549GeneDxcriteria provided, single submitter
Pathogenic
(Aug 27, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.

Ezquerra-Inchausti M, Anasagasti A, Barandika O, Garay-Aramburu G, Galdós M, López de Munain A, Irigoyen C, Ruiz-Ederra J.

Sci Rep. 2018 Oct 18;8(1):15457. doi: 10.1038/s41598-018-33810-3. Erratum in: Sci Rep. 2019 May 28;9(1):8113.

PubMed [citation]
PMID:
30337596
PMCID:
PMC6194132

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 (6)

Details of each submission

From Invitae, SCV001222271.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This sequence change creates a premature translational stop signal (p.Tyr3747*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs777465132, ExAC 0.02%). This nonsense change has been observed in individual(s) with inherited retinal dystrophy (PMID: 30337596). ClinVar contains an entry for this variant (Variation ID: 506273). 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 GeneDx, SCV001803549.1

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Dec 4, 2021

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