NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys) AND not specified

Clinical significance:Benign (Last evaluated: May 16, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000041262.4

Allele description [Variation Report for NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys)]

NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys)

Gene:
USH1C:USH1 protein network component harmonin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys)
HGVS:
  • NC_000011.10:g.17509463G>A
  • NG_011883.1:g.39954C>T
  • NG_011883.2:g.39954C>T
  • NM_001297764.2:c.1228-7483C>T
  • NM_005709.4:c.1285-7483C>T
  • NM_153676.4:c.1906C>TMANE SELECT
  • NP_710142.1:p.Arg636Cys
  • NC_000011.9:g.17531010G>A
  • NM_005709.3:c.1285-7483C>T
  • NM_153676.3:c.1906C>T
  • c.1906C>T
Protein change:
R636C
Links:
dbSNP: rs149510892
NCBI 1000 Genomes Browser:
rs149510892
Molecular consequence:
  • NM_001297764.2:c.1228-7483C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005709.4:c.1285-7483C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_153676.4:c.1906C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000064953Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(May 16, 2012)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided44not providednot providednot providedclinical testing

Citations

PubMed

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.

Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, Petit C, Balkany T, Nance WE, Liu XZ.

Hum Genet. 2002 Jul;111(1):26-30. Epub 2002 Jun 18.

PubMed [citation]
PMID:
12136232

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, SCV000064953.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (2)

Description

Arg636Cys in Exon 18 of USH1C: This variant has been reported in one individual with prelingual severe to profound deafness with no vision abnormalities (Ouyang 2002). However, this variant is not expected to have clinical significance beca use it has been identified in 0.5% (20/3738) of African American chromosomes fro m a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washin gton.edu/EVS; dbSNP rs149510892). In addition, this variant has been identified by our laboratory in a proband who carried two pathogenic variants in another ge ne.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided4not provided4not provided

Last Updated: Sep 29, 2021

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