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NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu) AND Stargardt disease

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 23, 2019
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:
RCV001002840.1

Allele description [Variation Report for NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu)]

NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu)

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.1958G>T (p.Arg653Leu)
HGVS:
  • NC_000001.11:g.94060739C>A
  • NG_009073.1:g.65411G>T
  • NG_009073.2:g.65409G>T
  • NM_000350.3:c.1958G>TMANE SELECT
  • NM_001425324.1:c.1958G>T
  • NP_000341.2:p.Arg653Leu
  • NP_001412253.1:p.Arg653Leu
  • NC_000001.10:g.94526295C>A
  • NM_000350.2:c.1958G>T
Protein change:
R653L
Links:
dbSNP: rs141823837
NCBI 1000 Genomes Browser:
rs141823837
Molecular consequence:
  • NM_000350.3:c.1958G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001425324.1:c.1958G>T - 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
SCV001160861Sharon lab, Hadassah-Hebrew University Medical Center
no assertion criteria provided
Likely pathogenic
(Jun 23, 2019) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001160861.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024