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NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) AND Stargardt disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2008
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000008370.3

Allele description

NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)

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.5819T>C (p.Leu1940Pro)
HGVS:
  • NC_000001.11:g.94008767A>G
  • NG_009073.1:g.117383T>C
  • NM_000350.3:c.5819T>C
  • NP_000341.2:p.Leu1940Pro
  • NC_000001.10:g.94474323A>G
  • NM_000350.2:c.5819T>C
  • P78363:p.Leu1940Pro
Protein change:
L1940P; LEU1940PRO
Links:
UniProtKB: P78363#VAR_012602; OMIM: 601691.0033; dbSNP: rs61753033
NCBI 1000 Genomes Browser:
rs61753033
Molecular consequence:
  • NM_000350.3:c.5819T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Stargardt disease (FFM)
Synonyms:
Stargardt's disease; Fundus flavimaculatus
Identifiers:
MONDO: MONDO:0019353; MedGen: C0271093; Orphanet: 827

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028578OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2008) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy.

Singh HP, Jalali S, Hejtmancik JF, Kannabiran C.

Am J Ophthalmol. 2006 May;141(5):906-13. Epub 2006 Mar 20.

PubMed [citation]
PMID:
16546111

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

Kitiratschky VB, Grau T, Bernd A, Zrenner E, Jägle H, Renner AB, Kellner U, Rudolph G, Jacobson SG, Cideciyan AV, Schaich S, Kohl S, Wissinger B.

Eur J Hum Genet. 2008 Jul;16(7):812-9. doi: 10.1038/ejhg.2008.23. Epub 2008 Feb 20.

PubMed [citation]
PMID:
18285826
PMCID:
PMC2579899

Details of each submission

From OMIM, SCV000028578.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 2 unrelated Spanish patients, one with fundus flavimaculatus (FFM; see 248200) and the other with early-onset Stargardt disease (STGD1; 248200), Paloma et al. (2001) identified heterozygosity for a mutation in exon 41 of the ABCA4 gene, resulting in a leu1940-to-pro (L1940P) substitution. The second disease allele remained unidentified in both patients.

In a 30-year-old man with cone dystrophy (CORD3; 604116), Kitiratschky et al. (2008) identified compound heterozygosity for a splice site mutation in intron 40 of the ABCA4 gene (601690.0010) and a 5819T-C transition in exon 41, resulting in the L1940P substitution.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 4, 2020