NM_206933.4(USH2A):c.1614C>A (p.Cys538Ter) AND Usher syndrome, type 2A

Clinical significance:Pathogenic (Last evaluated: Jun 4, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001250804.1

Allele description [Variation Report for NM_206933.4(USH2A):c.1614C>A (p.Cys538Ter)]

NM_206933.4(USH2A):c.1614C>A (p.Cys538Ter)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.1614C>A (p.Cys538Ter)
HGVS:
  • NC_000001.11:g.216321913G>T
  • NG_009497.1:g.106484C>A
  • NG_009497.2:g.106536C>A
  • NM_007123.6:c.1614C>A
  • NM_206933.4:c.1614C>AMANE SELECT
  • NP_009054.6:p.Cys538Ter
  • NP_996816.3:p.Cys538Ter
  • NC_000001.10:g.216495255G>T
  • NM_206933.2:c.1614C>A
Protein change:
C538*
Molecular consequence:
  • NM_007123.6:c.1614C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_206933.4:c.1614C>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
SCV001426287Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleaguescriteria provided, single submitter
Pathogenic
(Jun 4, 2020)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues, SCV001426287.1

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

Last Updated: Sep 18, 2020

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