NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) AND Usher syndrome, type 2A

Clinical significance:Pathogenic (Last evaluated: Mar 25, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001353056.1

Allele description [Variation Report for NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)]

NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter)
HGVS:
  • NC_000001.11:g.215782873G>A
  • NG_009497.1:g.645524C>T
  • NG_009497.2:g.645576C>T
  • NM_206933.4:c.10450C>TMANE SELECT
  • NP_996816.3:p.Arg3484Ter
  • NC_000001.10:g.215956215G>A
  • NM_206933.2:c.10450C>T
  • c.10450C>T
  • p.Arg3484X
Protein change:
R3484*
Links:
dbSNP: rs111033379
NCBI 1000 Genomes Browser:
rs111033379
Molecular consequence:
  • NM_206933.4:c.10450C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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
SCV001548180Centre for Inherited Metabolic Diseases, Karolinska University Hospitalcriteria provided, single submitter
Pathogenic
(Mar 25, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centre for Inherited Metabolic Diseases, Karolinska University Hospital, SCV001548180.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not provideddiscovery1not providednot providednot provided

Last Updated: Sep 24, 2021

Support Center