NM_206933.4(USH2A):c.12398A>T (p.Glu4133Val) AND Usher syndrome type 2A

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 15, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001278864.1

Allele description [Variation Report for NM_206933.4(USH2A):c.12398A>T (p.Glu4133Val)]

NM_206933.4(USH2A):c.12398A>T (p.Glu4133Val)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.12398A>T (p.Glu4133Val)
HGVS:
  • NC_000001.11:g.215675513T>A
  • NG_009497.1:g.752884A>T
  • NG_009497.2:g.752936A>T
  • NM_206933.4:c.12398A>TMANE SELECT
  • NP_996816.3:p.Glu4133Val
  • NC_000001.10:g.215848855T>A
Protein change:
E4133V
Links:
dbSNP: rs1657992951
NCBI 1000 Genomes Browser:
rs1657992951
Molecular consequence:
  • NM_206933.4:c.12398A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Usher syndrome type 2A
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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001465910Natera, Inc.
no assertion criteria provided
Uncertain significance
(Aug 15, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001465910.1

#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: Apr 23, 2022