ClinVar Genomic variation as it relates to human health
NM_000350.2(ABCA4):c.[1A>G;6089G>A]
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
NM_000350.2(ABCA4):c.[1A>G;6089G>A]
- Other names
- -
- Functional consequence
- -
- Links
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Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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| HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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| ABCA4 | - | - |
GRCh38 GRCh37 |
3864 | 4234 | |
Conditions - Germline
| Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
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The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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| Pathogenic (1) |
no assertion criteria provided
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Jun 23, 2019 | RCV001002805.3 |
Submissions - Germline
| Classification
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The submitted germline classification for each SCV record. (Last evaluated) |
Review status
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Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
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The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Jun 23, 2019)
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no assertion criteria provided
Method: research
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Stargardt disease
Affected status: yes
Allele origin:
inherited
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Sharon lab, Hadassah-Hebrew University Medical Center
Accession: SCV001160817.2
First in ClinVar: Feb 16, 2020 Last updated: Sep 03, 2023 |
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Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Genetic Diagnosis for 64 Patients with Inherited Retinal Disease. | Lynn J | Genes | 2022 | PMID: 36672815 |
| Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy. | Karali M | Scientific reports | 2022 | PMID: 36460718 |
| Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy. | Karali M | Scientific reports | 2022 | PMID: 36460718 |
| Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy. | Falsini B | Scientific reports | 2022 | PMID: 35260635 |
| Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies. | Del Pozo-Valero M | Investigative ophthalmology & visual science | 2022 | PMID: 35119454 |
| Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies. | Del Pozo-Valero M | Investigative ophthalmology & visual science | 2022 | PMID: 35119454 |
| Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates. | Pfau M | JCI insight | 2022 | PMID: 35076026 |
| Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy. | de Breuk A | JAMA ophthalmology | 2021 | PMID: 34647987 |
| The genetic structure of the Turkish population reveals high levels of variation and admixture. | Kars ME | Proceedings of the National Academy of Sciences of the United States of America | 2021 | PMID: 34426522 |
| Updating the Genetic Landscape of Inherited Retinal Dystrophies. | García Bohórquez B | Frontiers in cell and developmental biology | 2021 | PMID: 34327195 |
| Molecular genetics of inherited retinal degenerations in Icelandic patients. | Thorsteinsson DA | Clinical genetics | 2021 | PMID: 33851411 |
| Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. | Maggi J | International journal of molecular sciences | 2021 | PMID: 33546218 |
| Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration. | Curtis SB | Human mutation | 2020 | PMID: 32845050 |
| Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease. | Runhart EH | JAMA ophthalmology | 2020 | PMID: 32815999 |
| Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants. | Del Pozo-Valero M | American journal of ophthalmology | 2020 | PMID: 32619608 |
| Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants. | Del Pozo-Valero M | American journal of ophthalmology | 2020 | PMID: 32619608 |
| Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period. | Weisschuh N | Human mutation | 2020 | PMID: 32531858 |
| The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate. | Green JS | European journal of human genetics : EJHG | 2020 | PMID: 32467599 |
| Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. | Khan M | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 32307445 |
| Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases. | Hanany M | Proceedings of the National Academy of Sciences of the United States of America | 2020 | PMID: 31964843 |
| Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases. | Hanany M | Proceedings of the National Academy of Sciences of the United States of America | 2020 | PMID: 31964843 |
| A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). | Sharon D | Human mutation | 2020 | PMID: 31456290 |
| A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). | Sharon D | Human mutation | 2020 | PMID: 31456290 |
| Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes. | Capalbo A | PLoS genetics | 2019 | PMID: 31589614 |
| Highly Variable Disease Courses in Siblings with Stargardt Disease. | Valkenburg D | Ophthalmology | 2019 | PMID: 31522899 |
| Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations. | Riera M | Stem cell research | 2019 | PMID: 30798147 |
| Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | Jespersgaard C | Scientific reports | 2019 | PMID: 30718709 |
| ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants. | Bauwens M | Genetics in medicine : official journal of the American College of Medical Genetics | 2019 | PMID: 30670881 |
| Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8. | Fujinami K | The British journal of ophthalmology | 2019 | PMID: 29925512 |
| Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8. | Fujinami K | The British journal of ophthalmology | 2019 | PMID: 29925512 |
| Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration. | Kersten E | Clinical genetics | 2018 | PMID: 30215852 |
| Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. | Birtel J | Scientific reports | 2018 | PMID: 29555955 |
| Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. | Stone EM | Ophthalmology | 2017 | PMID: 28559085 |
| 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 | Investigative ophthalmology & visual science | 2017 | PMID: 28118664 |
| 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 | Investigative ophthalmology & visual science | 2017 | PMID: 28118664 |
| In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases. | Cornelis SS | Human mutation | 2017 | PMID: 28044389 |
| Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. | Zhang Q | Scientific reports | 2016 | PMID: 27596865 |
| Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy. | Duncker T | Ophthalmology | 2015 | PMID: 25283059 |
| Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies. | Bertelsen M | Investigative ophthalmology & visual science | 2014 | PMID: 24713488 |
| Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. | Eisenberger T | PloS one | 2013 | PMID: 24265693 |
| Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. | Eisenberger T | PloS one | 2013 | PMID: 24265693 |
| Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function. | Fujinami K | American journal of ophthalmology | 2013 | PMID: 23953153 |
| A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations. | Fujinami K | American journal of ophthalmology | 2013 | PMID: 23499370 |
| Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications. | Downes SM | Archives of ophthalmology (Chicago, Ill. : 1960) | 2012 | PMID: 23143460 |
| Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy. | Duno M | Ophthalmic genetics | 2012 | PMID: 22229821 |
| Peripapillary atrophy in Stargardt disease. | Hwang JC | Retina (Philadelphia, Pa.) | 2009 | PMID: 18854780 |
| Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. | Briggs CE | Investigative ophthalmology & visual science | 2001 | PMID: 11527935 |
| Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). | Yatsenko AN | Human genetics | 2001 | PMID: 11379881 |
| An analysis of allelic variation in the ABCA4 gene. | Webster AR | Investigative ophthalmology & visual science | 2001 | PMID: 11328725 |
| Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. | Lewis RA | American journal of human genetics | 1999 | PMID: 9973280 |
| http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ABCA4 | - | - | - | - |
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Text-mined citations for this variant ...
HelpRecord last updated Feb 01, 2025
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.