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NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His) AND Stargardt disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 20, 2022
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:
RCV002469401.1

Allele description [Variation Report for NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His)]

NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His)

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.6308C>A (p.Pro2103His)
HGVS:
  • NC_000001.11:g.94001080G>T
  • NG_009073.1:g.125070C>A
  • NG_009073.2:g.125068C>A
  • NM_000350.3:c.6308C>AMANE SELECT
  • NM_001425324.1:c.6086C>A
  • NP_000341.2:p.Pro2103His
  • NP_001412253.1:p.Pro2029His
  • NC_000001.10:g.94466636G>T
Protein change:
P2029H
Links:
dbSNP: rs2100994049
NCBI 1000 Genomes Browser:
rs2100994049
Molecular consequence:
  • NM_000350.3:c.6308C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001425324.1:c.6086C>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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002765144Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana
no assertion criteria provided
Pathogenic
(Dec 20, 2022)
biparentalresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedbiparentalyes1not providednot providednot providednot providedresearch

Citations

PubMed

Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.

Wang Y, Sun W, Zhou J, Li X, Jiang Y, Li S, Jia X, Xiao X, Ouyang J, Wang Y, Zhou L, Long Y, Liu M, Li Y, Yi Z, Wang P, Zhang Q.

Invest Ophthalmol Vis Sci. 2022 May 2;63(5):28. doi: 10.1167/iovs.63.5.28.

PubMed [citation]
PMID:
35608843
PMCID:
PMC9150840

Details of each submission

From Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana, SCV002765144.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearch PubMed (1)

Description

PM1,PP2,PM2,PP3,PP5 ACMG Criteria

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1biparentalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2024