NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) AND Retinal dystrophy

Clinical significance:Pathogenic (Last evaluated: Jun 16, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000210333.2

Allele description [Variation Report for NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)]

NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)

Gene:
ABCA4:ATP binding cassette subfamily A member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p22.1
Genomic location:
Preferred name:
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)
HGVS:
  • NC_000001.11:g.94031027A>G
  • NG_009073.1:g.95123T>C
  • NM_000350.3:c.4222T>CMANE SELECT
  • NP_000341.2:p.Trp1408Arg
  • NC_000001.10:g.94496583A>G
  • NM_000350.2:c.4222T>C
  • P78363:p.Trp1408Arg
Protein change:
W1408R
Links:
UniProtKB: P78363#VAR_008446; dbSNP: rs61750135
NCBI 1000 Genomes Browser:
rs61750135
Molecular consequence:
  • NM_000350.3:c.4222T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000259104Centre for Genomic Medicine, Manchester,Central Manchester University Hospitalsno assertion criteria providedPathogenic
(Jan 30, 2015)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001239107Blueprint Geneticscriteria provided, single submitter
Pathogenic
(Jun 16, 2019)
germlineclinical testing

Citation Link

Description

My Retina Tracker patient

SCV001239107

Summary from all submissions

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

Citations

PubMed

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

Ellingford JM, Barton S, Bhaskar S, Williams SG, Sergouniotis PI, O'Sullivan J, Lamb JA, Perveen R, Hall G, Newman WG, Bishop PN, Roberts SA, Leach R, Tearle R, Bayliss S, Ramsden SC, Nemeth AH, Black GC.

Ophthalmology. 2016 May;123(5):1143-50. doi: 10.1016/j.ophtha.2016.01.009. Epub 2016 Feb 9.

PubMed [citation]
PMID:
26872967
PMCID:
PMC4845717

Details of each submission

From Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals, SCV000259104.1

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

From Blueprint Genetics, SCV001239107.1

#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: Sep 7, 2021

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