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NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) AND Retinal dystrophy

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jul 31, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000225490.3

Allele description [Variation Report for NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe)]

NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe)

Genes:
USH2A-AS1:USH2A antisense RNA 1 [Gene - HGNC]
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe)
HGVS:
  • NC_000001.11:g.216199854C>A
  • NG_009497.2:g.228595G>T
  • NM_007123.6:c.3584G>T
  • NM_206933.4:c.3584G>TMANE SELECT
  • NP_009054.6:p.Cys1195Phe
  • NP_996816.3:p.Cys1195Phe
  • NC_000001.10:g.216373196C>A
  • NG_009497.1:g.228543G>T
  • NM_007123.5:c.3584G>T
  • NM_206933.2:c.3584G>T
Protein change:
C1195F
Links:
dbSNP: rs727504652
NCBI 1000 Genomes Browser:
rs727504652
Molecular consequence:
  • NM_007123.6:c.3584G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_206933.4:c.3584G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinal dystrophy
Synonyms:
Inherited retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000282650Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
no assertion criteria provided
Uncertain significancegermlineclinical testing

SCV001240459Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)		Uncertain significance
(Jul 31, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals, SCV000282650.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Blueprint Genetics, SCV001240459.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024