NM_206933.4(USH2A):c.10450C>T (p.Arg3484Ter) AND Rare genetic deafness

Clinical significance:Likely pathogenic (Last evaluated: Mar 1, 2008)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000041669.2

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:
Rare genetic deafness
Identifiers:
MedGen: CN826980; Orphanet: 96210

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000065365Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely pathogenic
(Mar 1, 2008)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000065365.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Nov 27, 2021

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