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NM_206933.4(USH2A):c.653T>A (p.Val218Glu) AND Rare genetic deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 9, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000041890.7

Allele description [Variation Report for NM_206933.4(USH2A):c.653T>A (p.Val218Glu)]

NM_206933.4(USH2A):c.653T>A (p.Val218Glu)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)
HGVS:
  • NC_000001.11:g.216365084A>T
  • NG_009497.2:g.63365T>A
  • NM_007123.6:c.653T>A
  • NM_206933.4:c.653T>AMANE SELECT
  • NP_009054.6:p.Val218Glu
  • NP_996816.3:p.Val218Glu
  • NC_000001.10:g.216538426A>T
  • NG_009497.1:g.63313T>A
  • NM_007123.5:c.653T>A
  • NM_206933.2:c.653T>A
  • O75445:p.Val218Glu
  • c.653T>A
Protein change:
V218E
Links:
UniProtKB: O75445#VAR_025762; dbSNP: rs397518026
NCBI 1000 Genomes Browser:
rs397518026
Molecular consequence:
  • NM_007123.6:c.653T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206933.4:c.653T>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Rare genetic deafness
Identifiers:
MedGen: C5680250; Orphanet: 96210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000065586Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(Aug 9, 2016) 		germlineclinical testing

PubMed (9)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided32not providednot providednot providedclinical testing

Citations

PubMed

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.

Herrera W, Aleman TS, Cideciyan AV, Roman AJ, Banin E, Ben-Yosef T, Gardner LM, Sumaroka A, Windsor EA, Schwartz SB, Stone EM, Liu XZ, Kimberling WJ, Jacobson SG.

Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2651-60. doi: 10.1167/iovs.07-1505. Epub 2008 Feb 15.

PubMed [citation]
PMID:
18281613

Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

Leroy BP, Aragon-Martin JA, Weston MD, Bessant DA, Willis C, Webster AR, Bird AC, Kimberling WJ, Payne AM, Bhattacharya SS.

Exp Eye Res. 2001 May;72(5):503-9.

PubMed [citation]
PMID:
11311042
See all PubMed Citations (9)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000065586.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (9)

Description

The p.Val218Glu variant in USH2A has been reported in at least 8 individuals wit h Usher syndrome, all of whom carried a second, pathogenic USH2A variant on the other allele (Leroy 2001, Cremers 2007, Baux 2007, Herrera 2008, Bonnet 2011, Gl ockle 2013, Besnard 2014). This variant has also been identified in 5/66590 Euro pean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadins titute.org; dbSNP rs397518026). Although it has been seen in the general populat ion, its frequency is low enough to be consistent with a recessive carrier frequ ency. In summary, this variant meets criteria to be classified as pathogenic for Usher syndrome in an autosomal recessive manner based upon its occurrence in tr ans with known pathogenic USH2A variants in multiple affected individuals.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided2not provided

Last Updated: Apr 15, 2024