NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) AND Stargardt disease 1

Clinical significance:Likely pathogenic (Last evaluated: Jan 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000177510.4

Allele description [Variation Report for NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)]

NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)

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.4594G>A (p.Asp1532Asn)
HGVS:
  • NC_000001.11:g.94024994C>T
  • NG_009073.1:g.101156G>A
  • NM_000350.3:c.4594G>AMANE SELECT
  • NP_000341.2:p.Asp1532Asn
  • NC_000001.10:g.94490550C>T
  • NM_000350.2:c.4594G>A
  • P78363:p.Asp1532Asn
Protein change:
D1532N
Links:
UniProtKB: P78363#VAR_008457; dbSNP: rs62642574
NCBI 1000 Genomes Browser:
rs62642574
Molecular consequence:
  • NM_000350.3:c.4594G>A - 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
SCV000281897Institute of Human Genetics, Univ. Regensburg,Univ. Regensburgcriteria provided, single submitter
Likely pathogenic
(Jan 1, 2016)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not 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

G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.

Cella W, Greenstein VC, Zernant-Rajang J, Smith TR, Barile G, Allikmets R, Tsang SH.

Exp Eye Res. 2009 Jun 15;89(1):16-24. doi: 10.1016/j.exer.2009.02.001. Epub 2009 Feb 13.

PubMed [citation]
PMID:
19217903
PMCID:
PMC2742677
See all PubMed Citations (3)

Details of each submission

From Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg, SCV000281897.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes335not providednot provided1not providednot providednot provided

Last Updated: Sep 7, 2021

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