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NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn) 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:
RCV001002839.1

Allele description [Variation Report for NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn)]

NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn)

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.2294G>A (p.Ser765Asn)
HGVS:
  • NC_000001.11:g.94056689C>T
  • NG_009073.1:g.69461G>A
  • NG_009073.2:g.69459G>A
  • NM_000350.3:c.2294G>AMANE SELECT
  • NP_000341.2:p.Ser765Asn
  • NC_000001.10:g.94522245C>T
  • NM_000350.2:c.2294G>A
  • P78363:p.Ser765Asn
Protein change:
S765N
Links:
UniProtKB: P78363#VAR_012534; dbSNP: rs61749429
NCBI 1000 Genomes Browser:
rs61749429
Molecular consequence:
  • NM_000350.3:c.2294G>A - 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
SCV001160860Sharon 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, SCV001160860.1

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

Last Updated: Mar 30, 2024