NM_206933.3(USH2A):c.3558del (p.Cys1186fs) AND Rare genetic deafness

Clinical significance:Pathogenic (Last evaluated: Sep 17, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000824788.1

Allele description [Variation Report for NM_206933.3(USH2A):c.3558del (p.Cys1186fs)]

NM_206933.3(USH2A):c.3558del (p.Cys1186fs)

Genes:
USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.3(USH2A):c.3558del (p.Cys1186fs)
HGVS:
  • NC_000001.11:g.216199880del
  • NG_009497.1:g.228517del
  • NM_007123.5:c.3558del
  • NM_206933.3:c.3558del
  • NP_009054.5:p.Cys1186fs
  • NP_996816.2:p.Cys1186fs
  • NC_000001.10:g.216373222del
  • NC_000001.10:g.216373222delA
  • NM_206933.2:c.3558del
  • NM_206933.2:c.3558delT
  • c.3558delT
  • p.Cys1186fs
Protein change:
C1186fs
Links:
dbSNP: rs397518014
NCBI 1000 Genomes Browser:
rs397518014
Molecular consequence:
  • NM_007123.5:c.3558del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_206933.3:c.3558del - frameshift variant - [Sequence Ontology: SO:0001589]
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
SCV000065526Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Pathogenic
(Sep 17, 2011)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.

Kimberling WJ, Hildebrand MS, Shearer AE, Jensen ML, Halder JA, Trzupek K, Cohn ES, Weleber RG, Stone EM, Smith RJ.

Genet Med. 2010 Aug;12(8):512-6. doi: 10.1097/GIM.0b013e3181e5afb8.

PubMed [citation]
PMID:
20613545
PMCID:
PMC3131500

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, SCV000065526.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Jul 7, 2021

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