NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) AND Retinal dystrophy

Clinical significance:Pathogenic (Last evaluated: May 10, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000225560.2

Allele description [Variation Report for NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)]

NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)

Gene:
EYS:eyes shut homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q12
Genomic location:
Preferred name:
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)
HGVS:
  • NC_000006.12:g.65402507A>T
  • NG_023443.2:g.309719T>A
  • NM_001142800.2:c.1155T>AMANE SELECT
  • NM_001142801.2:c.1155T>A
  • NM_001292009.2:c.1155T>A
  • NM_198283.2:c.1155T>A
  • NP_001136272.1:p.Cys385Ter
  • NP_001136273.1:p.Cys385Ter
  • NP_001278938.1:p.Cys385Ter
  • NP_938024.1:p.Cys385Ter
  • NC_000006.11:g.66112400A>T
  • NM_001142800.1:c.1155T>A
Protein change:
C385*
Links:
dbSNP: rs143994166
NCBI 1000 Genomes Browser:
rs143994166
Molecular consequence:
  • NM_001142800.2:c.1155T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001142801.2:c.1155T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001292009.2:c.1155T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198283.2:c.1155T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000282553Centre for Genomic Medicine, Manchester,Central Manchester University Hospitalsno assertion criteria providedLikely pathogenicgermlineclinical testing

SCV001240969Blueprint Geneticscriteria provided, single submitter
Pathogenic
(May 10, 2018)
germlineclinical testing

Citation Link

Description

My Retina Tracker patient

SCV001240969

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, SCV000282553.1

#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, SCV001240969.1

#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 30, 2021

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