NM_000350.2(ABCA4):c.5461-10T>C AND Bull's eye maculopathy

Clinical significance:Likely pathogenic (Last evaluated: Jan 19, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000210325.1

Allele description

NM_000350.2(ABCA4):c.5461-10T>C

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_000350.2(ABCA4):c.5461-10T>C
HGVS:
  • NC_000001.11:g.94011395A>G
  • NG_009073.1:g.114755T>C
  • NM_000350.2:c.5461-10T>C
  • NC_000001.10:g.94476951A>G
Nucleotide change:
IVS39AS, T-C, -10
Links:
OMIM: 601691.0030; dbSNP: rs1800728
NCBI 1000 Genomes Browser:
rs1800728
Allele Frequency:
0.00022(G), GO-ESP
Molecular consequence:
  • NM_000350.2:c.5461-10T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Bull's eye maculopathy
Synonyms:
Chloroquine retinopathy
Identifiers:
MedGen: C0730330; Human Phenotype Ontology: HP:0011504

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000259075Centre for Genomic Medicine, Manchester,Central Manchester University Hospitalsno assertion criteria providedLikely pathogenic
(Jan 19, 2015)
germlineclinical testing

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

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, SCV000259075.1

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

Last Updated: Apr 2, 2018