NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) AND Stargardt disease 1

Clinical significance:Likely pathogenic (Last evaluated: Jan 30, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000408472.3

Allele description [Variation Report for NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)]

NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)

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.4462T>C (p.Cys1488Arg)
HGVS:
  • NC_000001.11:g.94029522A>G
  • NG_009073.1:g.96628T>C
  • NM_000350.3:c.4462T>CMANE SELECT
  • NP_000341.2:p.Cys1488Arg
  • NC_000001.10:g.94495078A>G
  • NM_000350.2:c.4462T>C
  • P78363:p.Cys1488Arg
Protein change:
C1488R
Links:
UniProtKB: P78363#VAR_008453; dbSNP: rs61750146
NCBI 1000 Genomes Browser:
rs61750146
Molecular consequence:
  • NM_000350.3:c.4462T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Stargardt disease 1 (STGD1)
Synonyms:
MACULAR DYSTROPHY WITH FLECKS, TYPE 1; STGD; Stargardt macular dystrophy; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009549; MeSH: D000080362; MedGen: C1855465; Orphanet: 827; OMIM: 248200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000281892Institute of Human Genetics, Univ. Regensburg,Univ. Regensburgcriteria provided, single submitter
Likely pathogenic
(Jan 1, 2016)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV001548141Institute of Medical Molecular Genetics, University of Zurichcriteria provided, single submitter
Likely pathogenic
(Jan 30, 2021)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes3not providednot provided335not providedclinical testing

Citations

PubMed

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

Lewis RA, Shroyer NF, Singh N, Allikmets R, Hutchinson A, Li Y, Lupski JR, Leppert M, Dean M.

Am J Hum Genet. 1999 Feb;64(2):422-34.

PubMed [citation]
PMID:
9973280
PMCID:
PMC1377752

Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.

Bertelsen M, Zernant J, Larsen M, Duno M, Allikmets R, Rosenberg T.

Invest Ophthalmol Vis Sci. 2014 Apr 29;55(4):2766-76. doi: 10.1167/iovs.13-13391.

PubMed [citation]
PMID:
24713488
PMCID:
PMC4005615
See all PubMed Citations (6)

Details of each submission

From Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg, SCV000281892.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes335not providednot provided3not providednot providednot provided

From Institute of Medical Molecular Genetics, University of Zurich, SCV001548141.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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