NM_206933.4(USH2A):c.1608C>T (p.Cys536=) AND not specified

Clinical significance:Benign (Last evaluated: Nov 19, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000152632.1

Allele description [Variation Report for NM_206933.4(USH2A):c.1608C>T (p.Cys536=)]

NM_206933.4(USH2A):c.1608C>T (p.Cys536=)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.1608C>T (p.Cys536=)
HGVS:
  • NC_000001.11:g.216321919G>A
  • NG_009497.1:g.106478C>T
  • NG_009497.2:g.106530C>T
  • NM_007123.6:c.1608C>T
  • NM_206933.4:c.1608C>TMANE SELECT
  • NP_009054.6:p.Cys536=
  • NP_996816.3:p.Cys536=
  • NC_000001.10:g.216495261G>A
  • NM_007123.5:c.1608C>T
  • NM_206933.2:c.1608C>T
  • p.Cys536Cys
Links:
dbSNP: rs187380128
NCBI 1000 Genomes Browser:
rs187380128
Molecular consequence:
  • NM_007123.6:c.1608C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_206933.4:c.1608C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

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
SCV000201954Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Nov 19, 2013)
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, SCV000201954.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Cys536Cys in Exon 9 of USH2A: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, it is not located with in the splice consensus sequence, and has been identified in 1.3% (5/394) of Han Chinese chromosomes by the 1000 Genomes Project (dbSNP rs187380128).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Nov 27, 2021

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