NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter) AND Usher syndrome, type 2A

Clinical significance:Pathogenic (Last evaluated: Sep 16, 2020)

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:
RCV001271137.1

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_206933.3:c.11241C>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
  • p.Tyr3747X
Protein change:
Y3747*
Links:
dbSNP: rs777465132
NCBI 1000 Genomes Browser:
rs777465132
Molecular consequence:
  • NM_206933.3:c.11241C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_206933.4:c.11241C>A - nonsense - [Sequence Ontology: SO:0001587]

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001451990Natera, Inc.no assertion criteria providedPathogenic
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001451990.1

#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: Oct 30, 2021

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