ClinVar Genomic variation as it relates to human health
NM_000350.3(ABCA4):c.[5603A>T;5714+5G>A]
Germline
Classification
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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.
(1)
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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.
Likely pathogenic
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
This haplotype includes the following variants
NM_000350.3(ABCA4):c.[5603A>T;5714+5G>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 |
3860 | 4229 | |
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. |
|---|---|---|---|---|
| Likely pathogenic (1) |
criteria provided, single submitter
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Jan 30, 2021 | RCV001352965.10 |
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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Likely pathogenic
(Jan 30, 2021)
|
criteria provided, single submitter
Method: clinical testing
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Severe early-childhood-onset retinal dystrophy
Affected status: yes
Allele origin:
unknown
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Institute of Medical Molecular Genetics, University of Zurich
Accession: SCV001548039.1
First in ClinVar: Mar 28, 2021 Last updated: Mar 28, 2021 |
Method: long-range PCR
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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 |
|---|---|---|---|---|
| Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group. | Schmidt RJ | Genetics in medicine : official journal of the American College of Medical Genetics | 2024 | PMID: 38054408 |
| Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. | Panneman DM | Frontiers in cell and developmental biology | 2023 | PMID: 36819107 |
| Genetic Diagnosis for 64 Patients with Inherited Retinal Disease. | Lynn J | Genes | 2022 | PMID: 36672815 |
| Stargardt Disease Due to an Intronic Mutation in the ABCA4: A Case Report. | Lugo-Merly A | International medical case reports journal | 2022 | PMID: 36471740 |
| 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 |
| A five-year follow-up of ABCA4 carriers showing deterioration of retinal function and increased structural changes. | Kjellström U | Molecular vision | 2022 | PMID: 36338671 |
| Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts. | Huang D | Experimental eye research | 2022 | PMID: 36209838 |
| Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals. | Maltese PE | Frontiers in genetics | 2022 | PMID: 35836572 |
| Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals. | Maltese PE | Frontiers in genetics | 2022 | PMID: 35836572 |
| Phenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations. | Tian L | Investigative ophthalmology & visual science | 2022 | PMID: 35657619 |
| Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies. | Kamenarova K | Molecular genetics & genomic medicine | 2022 | PMID: 35656873 |
| Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy. | Falsini B | Scientific reports | 2022 | PMID: 35260635 |
| Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy. | Falsini B | Scientific reports | 2022 | PMID: 35260635 |
| Late-onset Stargardt disease. | Alsberge JB | American journal of ophthalmology case reports | 2022 | PMID: 35243166 |
| 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 |
| Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates. | Pfau M | JCI insight | 2022 | PMID: 35076026 |
| The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK). | Zampaglione E | Genetics in medicine : official journal of the American College of Medical Genetics | 2022 | PMID: 34906470 |
| Genotype-Specific Lesion Growth Rates in Stargardt Disease. | Heath Jeffery RC | Genes | 2021 | PMID: 34946930 |
| Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases. | Fadaie Z | NPJ genomic medicine | 2021 | PMID: 34795310 |
| 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. | 100,000 Genomes Project Pilot Investigators | The New England journal of medicine | 2021 | PMID: 34758253 |
| Updating the Genetic Landscape of Inherited Retinal Dystrophies. | García Bohórquez B | Frontiers in cell and developmental biology | 2021 | PMID: 34327195 |
| Clinical and molecular findings in patients with pattern dystrophy. | Sodi A | Ophthalmic genetics | 2021 | PMID: 34240658 |
| Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene. | Huang D | Stem cell research | 2021 | PMID: 34198153 |
| Molecular genetics of inherited retinal degenerations in Icelandic patients. | Thorsteinsson DA | Clinical genetics | 2021 | PMID: 33851411 |
| Peripheral pigmented lesions in ABCA4-associated retinopathy. | Al-Ani HH | Ophthalmic genetics | 2021 | PMID: 33706644 |
| Peripheral pigmented lesions in ABCA4-associated retinopathy. | Al-Ani HH | Ophthalmic genetics | 2021 | PMID: 33706644 |
| Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. | Maggi J | International journal of molecular sciences | 2021 | PMID: 33546218 |
| Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. | Maggi J | International journal of molecular sciences | 2021 | PMID: 33546218 |
| Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. | Maggi J | International journal of molecular sciences | 2021 | PMID: 33546218 |
| Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration. | Garces FA | International journal of molecular sciences | 2020 | PMID: 33375396 |
| A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification. | Martín-Sánchez M | International journal of molecular sciences | 2020 | PMID: 33302505 |
| 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 |
| Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease. | Runhart EH | JAMA ophthalmology | 2020 | PMID: 32815999 |
| The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates. | Méjécase C | American journal of medical genetics. Part C, Seminars in medical genetics | 2020 | PMID: 32783370 |
| 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 |
| Whole-genome sequencing of patients with rare diseases in a national health system. | Turro E | Nature | 2020 | PMID: 32581362 |
| 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 |
| 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 |
| 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 |
| 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 |
| Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations. | Zampaglione E | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 32037395 |
| Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging. | Hou YC | Proceedings of the National Academy of Sciences of the United States of America | 2020 | PMID: 31980526 |
| 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 |
| Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge. | Holtan JP | Acta ophthalmologica | 2020 | PMID: 31429209 |
| Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge. | Holtan JP | Acta ophthalmologica | 2020 | PMID: 31429209 |
| Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles. | Runhart EH | Investigative ophthalmology & visual science | 2019 | PMID: 31618761 |
| 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 |
| Modification of the PROM1 disease phenotype by a mutation in ABCA4. | Lee W | Ophthalmic genetics | 2019 | PMID: 31576780 |
| Highly Variable Disease Courses in Siblings with Stargardt Disease. | Valkenburg D | Ophthalmology | 2019 | PMID: 31522899 |
| 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 |
| Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. | Sangermano R | Genetics in medicine : official journal of the American College of Medical Genetics | 2019 | PMID: 30643219 |
| CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION. | Collison FT | Retina (Philadelphia, Pa.) | 2019 | PMID: 30204727 |
| 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 |
| Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease. | Cremers FPM | Investigative ophthalmology & visual science | 2018 | PMID: 30480704 |
| Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease. | Allikmets R | Investigative ophthalmology & visual science | 2018 | PMID: 30480703 |
| Variants in the ABCA4 gene in a Brazilian population with Stargardt disease. | Salles MV | Molecular vision | 2018 | PMID: 30093795 |
| The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants. | Runhart EH | Investigative ophthalmology & visual science | 2018 | PMID: 29971439 |
| Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles. | Smaragda K | Journal of ophthalmology | 2018 | PMID: 29854428 |
| Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. | Birtel J | Scientific reports | 2018 | PMID: 29555955 |
| Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. | Birtel J | Scientific reports | 2018 | PMID: 29555955 |
| ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease. | Sangermano R | Genome research | 2018 | PMID: 29162642 |
| Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration. | Zernant J | Journal of medical genetics | 2017 | PMID: 28446513 |
| Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease. | Taylor RL | Ophthalmology | 2017 | PMID: 28341476 |
| 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 |
| The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. | Aukrust I | Acta ophthalmologica | 2017 | PMID: 27775217 |
| Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. | Ellingford JM | Ophthalmology | 2016 | PMID: 26872967 |
| Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations. | Jiang F | Investigative ophthalmology & visual science | 2016 | PMID: 26780318 |
| 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 |
| Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors. | Aguirre-Lamban J | Investigative ophthalmology & visual science | 2011 | PMID: 21330655 |
| ABCA4 disease progression and a proposed strategy for gene therapy. | Cideciyan AV | Human molecular genetics | 2009 | PMID: 19074458 |
| Peripapillary atrophy in Stargardt disease. | Hwang JC | Retina (Philadelphia, Pa.) | 2009 | PMID: 18854780 |
| ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. | Kitiratschky VB | European journal of human genetics : EJHG | 2008 | PMID: 18285826 |
| Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. | Buratti E | Nucleic acids research | 2007 | PMID: 17576681 |
| Correlation of clinical and genetic findings in Hungarian patients with Stargardt disease. | Hargitai J | Investigative ophthalmology & visual science | 2005 | PMID: 16303926 |
| ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. | Fishman GA | Archives of ophthalmology (Chicago, Ill. : 1960) | 2003 | PMID: 12796258 |
| Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation. | Gerth C | Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie | 2002 | PMID: 12192456 |
| Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients. | Fumagalli A | Human genetics | 2001 | PMID: 11702214 |
| An analysis of allelic variation in the ABCA4 gene. | Webster AR | Investigative ophthalmology & visual science | 2001 | PMID: 11328725 |
| Biochemical defects in ABCR protein variants associated with human retinopathies. | Sun H | Nature genetics | 2000 | PMID: 11017087 |
| A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. | Rivera A | American journal of human genetics | 2000 | PMID: 10958763 |
| Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene. | Klevering BJ | The British journal of ophthalmology | 1999 | PMID: 10413692 |
| 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 |
| Organization of the ABCR gene: analysis of promoter and splice junction sequences. | Allikmets R | Gene | 1998 | PMID: 9666097 |
| Statistical features of human exons and their flanking regions. | Zhang MQ | Human molecular genetics | 1998 | PMID: 9536098 |
| Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. | Cremers FP | Human molecular genetics | 1998 | PMID: 9466990 |
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Text-mined citations for this variant ...
HelpRecord last updated Jan 19, 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.