NM_206933.2(USH2A):c.9424G>T (p.Gly3142Ter) AND Usher syndrome, type 2A

Clinical significance:Pathogenic (Last evaluated: Jul 28, 2011)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000041952.2

Allele description

NM_206933.2(USH2A):c.9424G>T (p.Gly3142Ter)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.2(USH2A):c.9424G>T (p.Gly3142Ter)
HGVS:
  • NC_000001.11:g.215817143C>A
  • NG_009497.1:g.611254G>T
  • NM_206933.2:c.9424G>T
  • NP_996816.2:p.Gly3142Ter
  • NC_000001.10:g.215990485C>A
  • c.9424G>T
  • p.Gly3142X
Protein change:
G3142*
Links:
dbSNP: rs397518048
NCBI 1000 Genomes Browser:
rs397518048
Allele Frequency:
0.00003(A)
Molecular consequence:
  • NM_206933.2:c.9424G>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Usher syndrome, type 2A (USH2A)
Synonyms:
USHER SYNDROME, TYPE IIA; RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF
Identifiers:
MedGen: C1848634; Orphanet: 231178; Orphanet: 886; OMIM: 276901

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000065648Laboratory for Molecular Medicine,Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)no assertion criteria providedPathogenic
(Jul 28, 2011)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.

Baux D, Larrieu L, Blanchet C, Hamel C, Ben Salah S, Vielle A, Gilbert-Dussardier B, Holder M, Calvas P, Philip N, Edery P, Bonneau D, Claustres M, Malcolm S, Roux AF.

Hum Mutat. 2007 Aug;28(8):781-9.

PubMed [citation]
PMID:
17405132

Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

Sandberg MA, Rosner B, Weigel-DiFranco C, McGee TL, Dryja TP, Berson EL.

Invest Ophthalmol Vis Sci. 2008 Dec;49(12):5532-9. doi: 10.1167/iovs.08-2009. Epub 2008 Jul 18.

PubMed [citation]
PMID:
18641288
PMCID:
PMC2588642
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine,Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine), SCV000065648.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

The Gly3142X variant in USH2A has been reported in 4 probands with Usher syndrome and 2 probands with autosomal recessive retinitis pigmentosa (Sandberg 2008, Baux 2007, McGee 2010). In addition, the Gly3142X variant leads to a premature stop codon at position 3142, which is predicted to lead to a truncated or absent protein. In summary, this variant meets our criteria to be classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Aug 16, 2018