NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) AND Usher syndrome, type 2A

Clinical significance:Likely benign (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001100645.2

Allele description [Variation Report for NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)]

NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)

Genes:
USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)
HGVS:
  • NC_000001.11:g.216200043C>T
  • NG_009497.1:g.228354G>A
  • NG_009497.2:g.228406G>A
  • NM_007123.6:c.3395G>A
  • NM_206933.4:c.3395G>AMANE SELECT
  • NP_009054.6:p.Gly1132Asp
  • NP_996816.3:p.Gly1132Asp
  • NC_000001.10:g.216373385C>T
  • NM_007123.5:c.3395G>A
  • NM_206933.2:c.3395G>A
  • NM_206933.3:c.3395G>A
Protein change:
G1132D
Links:
dbSNP: rs34596189
NCBI 1000 Genomes Browser:
rs34596189
Molecular consequence:
  • NM_007123.6:c.3395G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206933.4:c.3395G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Usher syndrome, type 2A (USH2A)
Synonyms:
USHER SYNDROME, TYPE IIA; RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF
Identifiers:
MONDO: MONDO:0010169; MedGen: C1848634; Orphanet: 231178; Orphanet: 886; OMIM: 276901

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001257174Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Apr 27, 2017)
germlineclinical testing

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

Citation Link,

SCV001459760Natera, Inc.no assertion criteria providedLikely benign
(May 3, 2020)
germlineclinical testing

Summary from all submissions

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

Citations

PubMed

Molecular epidemiology of Usher syndrome in Italy.

Vozzi D, Aaspõllu A, Athanasakis E, Berto A, Fabretto A, Licastro D, Külm M, Testa F, Trevisi P, Vahter M, Ziviello C, Martini A, Simonelli F, Banfi S, Gasparini P.

Mol Vis. 2011;17:1662-8. Epub 2011 Jun 22.

PubMed [citation]
PMID:
21738395
PMCID:
PMC3130723

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001257174.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

From Natera, Inc., SCV001459760.1

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

Last Updated: Nov 27, 2021

Support Center