U.S. flag

An official website of the United States government

NM_000350.3(ABCA4):c.206G>A (p.Trp69Ter) AND Severe early-childhood-onset retinal dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000408521.2

Allele description [Variation Report for NM_000350.3(ABCA4):c.206G>A (p.Trp69Ter)]

NM_000350.3(ABCA4):c.206G>A (p.Trp69Ter)

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.206G>A (p.Trp69Ter)
HGVS:
  • NC_000001.11:g.94111534C>T
  • NG_009073.1:g.14616G>A
  • NG_009073.2:g.14614G>A
  • NM_000350.3:c.206G>AMANE SELECT
  • NM_001425324.1:c.206G>A
  • NP_000341.2:p.Trp69Ter
  • NP_001412253.1:p.Trp69Ter
  • NC_000001.10:g.94577090C>T
  • NM_000350.2:c.206G>A
Protein change:
W69*
Links:
dbSNP: rs886044722
NCBI 1000 Genomes Browser:
rs886044722
Molecular consequence:
  • NM_000350.3:c.206G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001425324.1:c.206G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Severe early-childhood-onset retinal dystrophy (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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000281804Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg
criteria provided, single submitter

(Schulz et al. (Invest Ophthalmol Vis Sci. 2017))
Pathogenic
(Jan 1, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided335not providedclinical testing

Citations

PubMed

Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

Schulz HL, Grassmann F, Kellner U, Spital G, Rüther K, Jägle H, Hufendiek K, Rating P, Huchzermeyer C, Baier MJ, Weber BH, Stöhr H.

Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):394-403. doi: 10.1167/iovs.16-19936.

PubMed [citation]
PMID:
28118664
PMCID:
PMC5270621

Details of each submission

From Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg, SCV000281804.2

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

Last Updated: Oct 26, 2024