ClinVar Genomic variation as it relates to human health
NM_000041.4(APOE):c.388T>C (p.Cys130Arg)
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.
Pathogenic(1); Likely pathogenic(2); Uncertain significance(2)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- NM_000041.3(APOE):c.[388T>C;478C>T]
- NM_000041.3(APOE):c.[388T>C;805C>G]
- NM_000041.3(APOE):c.[137T>C;388T>C]
- NM_000041.3(APOE):c.[305C>G;388T>C]
- Identifiers
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NM_000041.4(APOE):c.388T>C (p.Cys130Arg)
Variation ID: 17864 Accession: VCV000017864.34
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 19q13.32 19: 44908684 (GRCh38) [ NCBI UCSC ] 19: 45411941 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jan 13, 2018 Oct 20, 2024 Oct 1, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000041.4:c.388T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000032.1:p.Cys130Arg missense NM_001302688.2:c.466T>C NP_001289617.1:p.Cys156Arg missense NM_001302689.2:c.388T>C NP_001289618.1:p.Cys130Arg missense NM_001302690.2:c.388T>C NP_001289619.1:p.Cys130Arg missense NM_001302691.2:c.388T>C NP_001289620.1:p.Cys130Arg missense NC_000019.10:g.44908684T>C NC_000019.9:g.45411941T>C NG_007084.2:g.7903T>C P02649:p.Cys130Arg - Protein change
- C130R, C156R
- Other names
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C112R
ApoE4
- Canonical SPDI
- NC_000019.10:44908683:T:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Uncertain function
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.15056 (C)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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The Genome Aggregation Database (gnomAD), exomes 0.13850
1000 Genomes Project 0.15056
1000 Genomes Project 30x 0.15116
Trans-Omics for Precision Medicine (TOPMed) 0.15531
The Genome Aggregation Database (gnomAD) 0.16059
Exome Aggregation Consortium (ExAC) 0.18433
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
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
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
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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APOE | - | - |
GRCh38 GRCh37 |
189 | 208 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
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
Help
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
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
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/Established risk allele (2) |
no assertion criteria provided
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Jun 27, 2022 | RCV000019448.48 | |
Conflicting interpretations of pathogenicity; other; risk factor (4) |
criteria provided, conflicting classifications
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Oct 1, 2022 | RCV000292119.31 | |
risk factor (1) |
criteria provided, single submitter
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Jan 16, 2019 | RCV000826089.12 | |
Likely pathogenic (2) |
criteria provided, single submitter
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Jun 27, 2019 | RCV000991302.11 | |
drug response (1) |
no assertion criteria provided
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Aug 31, 2010 | RCV000845581.10 | |
Uncertain significance (1) |
criteria provided, single submitter
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Jan 1, 2019 | RCV001262791.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 24, 2020 | RCV001195807.10 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
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
Help
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
Help
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
Help
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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risk factor
(Jan 16, 2019)
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criteria provided, single submitter
Method: clinical testing
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Primary degenerative dementia of the Alzheimer type, presenile onset
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000967586.1
First in ClinVar: Aug 26, 2019 Last updated: Aug 26, 2019 |
Comment:
proposed classification - variant undergoing re-assessment, contact laboratory
Number of individuals with the variant: 28
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risk factor
(-)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
Accession: SCV000987489.1
First in ClinVar: Sep 09, 2019 Last updated: Sep 09, 2019 |
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Likely pathogenic
(Jun 27, 2019)
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criteria provided, single submitter
Method: clinical testing
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Alzheimer disease type 1
Affected status: yes
Allele origin:
germline
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Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
Accession: SCV001142704.1
First in ClinVar: Jan 18, 2020 Last updated: Jan 18, 2020 |
Number of individuals with the variant: 5
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Uncertain significance
(Jan 01, 2019)
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criteria provided, single submitter
Method: clinical testing
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Lipoprotein glomerulopathy
Affected status: no
Allele origin:
unknown
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Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001440792.1
First in ClinVar: Oct 31, 2020 Last updated: Oct 31, 2020 |
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Pathogenic
(Mar 24, 2020)
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criteria provided, single submitter
Method: clinical testing
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Alzheimer disease 4
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV001366227.2
First in ClinVar: Jul 06, 2020 Last updated: Jul 06, 2020 |
Comment:
This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PM4. This variant was detected in homozygous state.
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other
(Nov 17, 2017)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Eurofins Ntd Llc (ga)
Accession: SCV000333415.3
First in ClinVar: Dec 06, 2016 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 5
Sex: mixed
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Likely pathogenic
(Mar 29, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: yes
Allele origin:
germline
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AiLife Diagnostics, AiLife Diagnostics
Accession: SCV002502503.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 618
Secondary finding: no
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Uncertain significance
(Oct 01, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV002822580.14
First in ClinVar: Jan 21, 2023 Last updated: Oct 20, 2024 |
Number of individuals with the variant: 1
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drug response
(Aug 31, 2010)
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no assertion criteria provided
Method: research
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Warfarin response
Drug used for
hemorrhage
Affected status: no
Allele origin:
unknown
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Pharmacogenomics Lab, Chungbuk National University
Accession: SCV000889946.1
First in ClinVar: Sep 09, 2019 Last updated: Sep 09, 2019 |
Number of individuals with the variant: 142
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Pathogenic
(Jun 27, 2022)
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no assertion criteria provided
Method: literature only
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ALZHEIMER DISEASE 2 DUE TO APOE4 ISOFORM
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000039738.11
First in ClinVar: Apr 04, 2013 Last updated: Jul 09, 2022 |
Comment on evidence:
Weisgraber et al. (1981), Das et al. (1985), and Paik et al. (1985) identified the apolipoprotein E4 (apoE4) isoform, in which there is a cys112-to-arg … (more)
Weisgraber et al. (1981), Das et al. (1985), and Paik et al. (1985) identified the apolipoprotein E4 (apoE4) isoform, in which there is a cys112-to-arg (C112R) substitution. This variant is found in 6 to 37% of individuals from different populations. Individuals carrying the apolipoprotein E4 allele display low levels of apolipoprotein E and high levels of plasma cholesterol, low density lipoprotein-cholesterol, apolipoprotein B, lipoprotein (a), and are at higher risk for coronary artery disease than other individuals. Saunders et al. (1993) reported an increased frequency of the E4 allele in a small prospective series of possible-probable AD patients presenting to the memory disorders clinic at Duke University, in comparison with spouse controls. Corder et al. (1993) found that the APOE*E4 allele is associated with the late-onset familial and sporadic forms of Alzheimer disease. In 42 families with the late-onset form of Alzheimer disease (AD2; 104310), the gene had been mapped to the same region of chromosome 19 as the APOE gene. Corder et al. (1993) found that the risk for AD increased from 20 to 90% and mean age of onset decreased from 84 to 68 years with increasing number of APOE*E4 alleles. Homozygosity for APOE*E4 was virtually sufficient to cause AD by age 80. Myers et al. (1996) examined the association of apolipoprotein E4 with Alzheimer disease and other dementias in 1,030 elderly individuals in the Framingham Study cohort. They found an increased risk for Alzheimer disease as well as other dementias in patients who were homozygous or heterozygous for E4. However they pointed out that most apoE4 carriers do not develop dementia and about one-half of Alzheimer disease is not associated with apoE4. Tang et al. (1996) compared relative risks by APOE genotypes in a collection of cases and controls from 3 ethnic groups in a New York community. The relative risk for Alzheimer disease associated with APOE4 homozygosity was increased in all ethnic groups: African American RR = 3.0; Caucasian RR = 7.3; and Hispanic RR = 2.5 (compared with the RR with APOE3 homozygosity). The risk was also increased for APOE4 heterozygous Caucasians and Hispanics, but not for African Americans. The age distribution of the proportion of Caucasian and Hispanics without AD was consistently lower for APOE4 homozygous and APOE4 heterozygous individuals than for those with other APOE genotypes. In African Americans this relationship was observed only in APOE4 homozygotes. Differences in risk among APOE4 heterozygous African Americans suggested to the authors that other genetic or environmental factors may modify the effect of APOE4 in some populations. In a longitudinal study of 55 patients with Alzheimer disease, Mori et al. (2002) determined that the rate of hippocampal atrophy was significantly greater in those with an APOE4 allele, and that the rate became more severe as the number of E4 alleles increased. However, their data did not support the findings of previous studies that the E4 allele is associated with an increased rate of cognitive decline. In a cohort of 180 asymptomatic individuals with a mean age of 60 years, Caselli et al. (2004) found that carriers of an E4 allele showed greater declines in memory performance over a median period of 33 months compared to those without an E4 allele. Among 494 individuals with mild cognitive impairment, Farlow et al. (2004) found an association between the E4 allele and worse scores on cognition tests as well as smaller total hippocampal volume. Among 6,202 Caucasian middle-aged individuals (47 to 68 years), Blair et al. (2005) found that carriers of the E4 allele had greater cognitive decline over a 6-year period compared to those without an E4 allele. Results for 1,693 African American patients were inconclusive. Enzinger et al. (2004) noted that decreases in brain size and volume in patients with multiple sclerosis (126200) are related to neuroaxonal injury and loss, and are a useful surrogate marker of tissue damage and disease progression. In a study of 99 patients with MS, the authors found that patients who carried an E4 allele had more relapses during the study period and had a 5-fold higher rate of annual brain volume loss compared to patients without the E4 allele. Over time, E4 carriers also had an increase in individual lesions on MRI, termed 'black holes.' Among all genotype groups, the lowest annual loss of brain volume occurred in patients with an E2 allele. Among 76 patients with relapsing-remitting MS, de Stefano et al. (2004) found that carriers of the E4 allele showed significantly lower total brain volumes compared to MS patients without the E4 alleles. There was no difference in lesion volume between the 2 groups. The authors suggested that the E4 allele is linked to impaired mechanisms of cell repair and severe tissue destruction in MS. Among 89 patients with head injury, Teasdale et al. (1997) found that patients with the E4 allele were more likely than those without the E4 allele to have an unfavorable outcome 6 months after head injury. The authors discussed the role of the apoE protein in response to acute brain injury. In a prospective study of 69 patients with severe blunt trauma to the head, Friedman et al. (1999) found an odds ratio of 5.69 for more than 7 days of unconsciousness and 13.93 for a suboptimal neurologic outcome at 6 months for individuals with an APOE4 allele compared to those without that allele. In 110 patients with traumatic brain injury (TBI), Crawford et al. (2002) tested memory and other cognitive variables and found that patients with the APOE4 allele had more difficulty with memory than matched patients without the E4 allele. In those with the E4 allele, performance was poor regardless of severity of injury, whereas in those without the E4 allele, performance worsened with more severe injury. Crawford et al. (2002) noted that TBI may result in greater damage to the medial temporal lobe structures involved in memory and suggested a role for the APOE protein in neuronal repair. In 87 patients with mild to moderate TBI, Liberman et al. (2002) used neuropsychologic testing to examine whether the APOE4 genotype affected short-term recovery. At 6 weeks, E4-positive patients had lower mean scores on 11 of 13 tests, but the differences from the E4-negative group were smaller than the differences observed at 3 weeks. Although Liberman et al. (2002) stated that the findings are consistent with delayed recovery among E4-positive TBI patients, perhaps due to interactions with beta-amyloid, they cautioned against the generalizability of the results. Among 60 patients with TBI with a mean follow-up of 31 years, Koponen et al. (2004) found that presence of the E4 allele increased the risk for dementia, but there was no association between the E4 allele and development of other psychiatric illnesses, including depression, anxiety, psychosis, or personality disorders. Montagne et al. (2020) showed that individuals bearing APOE4 were distinguished from those without APOE4 by breakdown of the blood-brain barrier in hippocampus and medial temporal lobe. This finding was apparent in cognitively unimpaired APOE4 carriers and was more severe in those with cognitive impairment, but it was not related to amyloid-beta or tau pathology measured in cerebrospinal fluid or by positron emission tomography. High baseline levels of soluble PDGFR-beta (PDGFRB; 173410), a blood-brain barrier pericyte injury biomarker, in cerebrospinal fluid predicted future cognitive decline in APOE4 carriers but not in noncarriers, even after controlling for amyloid-beta and tau status, and correlated with increased activity of the blood-brain barrier-degrading cyclophilin A (PPIA; 123840)-matrix metalloproteinase-9 (MMP9; 120361) pathway in cerebrospinal fluid. Montagne et al. (2020) concluded that breakdown of the blood-brain barrier contributes to APOE4-associated cognitive decline independently of Alzheimer disease pathology and might be a therapeutic target in APOE4 carriers. (less)
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Established risk allele
(-)
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no assertion criteria provided
Method: clinical testing
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Alzheimer disease 2
Affected status: yes
Allele origin:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001550609.2 First in ClinVar: Apr 13, 2021 Last updated: Dec 24, 2022 |
Comment:
The variant APOE c.388T>C (p.Cys130Arg) was identified in dsSNP (ID: rs429358) and Clinvar (classified as pathogenic by OMIM). Farrer et al. reported in a meta-analysis … (more)
The variant APOE c.388T>C (p.Cys130Arg) was identified in dsSNP (ID: rs429358) and Clinvar (classified as pathogenic by OMIM). Farrer et al. reported in a meta-analysis (5930 patients who met the criteria for Alzheimer disease (AD), and 8607 controls) that the p.Cys130Arg variant (also known as the e4 variant) represented a major risk factor for AD, with the risk of AD significantly increased among Caucasian subjects with genotypes e2/e4 (OR=2.6, 95% CI=1.6-4.0), e3/e4 (OR=3.2, 95% CI=2.8-3.8), and e4/e4 (OR=14.9, 95% CI 10.8-20.6). The association between p.Cys130Arg and AD was stronger in Japanese subjects with genotypes e3/e4 (OR=5.6, 95% CI 3.0-8.0) and e4/e4 (OR=33.1, 95% CI=13.6-80.5) (Farrer_1997_9343467). Another study using data from 1968 African American patients with Late-Onset Alzheimer Disease (LOAD) and 3928 control patients showed that SNPs such as p.Cys130Arg in the APOE region were significant for association with LOAD (P = 5.5 × 10–47) (Reitz_2013_ 23571587). In addition, another study involving 45 patients with AD and 53 controls of Ashkenazi Jewish ancestry observed an association signal for AD risk for the variant p.Cys130Arg (P =1.02×E−08, OR=0.6, 95% CI: 4.20–26.8) (Freudenberg-Hua_2016_27260402). In vivo and in vitro functional studies also provide evidence that the p.Cys130Arg variant may have an effect on increased amyloid beta accumulation, neurotoxicity, and neuritic dystrophy (Youmans_2012_23060451, Liu_2014_29216449). The variant was identified in control databases in 28,637 of 200,920 chromosomes (2,091 homozygous) at a frequency of 14.2529%, and was observed at the highest frequency in the European-Non Finnish (NFE) population in 12,460 of 83,842 chromosomes (freq: 14.8613%) (Genome Aggregation Database March 6, 2019, v2.1.1). The p.Cys130Arg residue is conserved in mammals and computational analyses (MUT Assesor, PolyPhen-2, SIFT, MutationTaster, Revel, FATHMM, MetaLR, DANN) do not suggest a high likelihood of impact to the protein; this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (Splice AI exome) do not predict a deleterious effect on splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. However, this variant may act as a risk factor for Alzheimer's Disease. (less)
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Established risk allele
(-)
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no assertion criteria provided
Method: research
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Alzheimer's Disease
Affected status: unknown
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Accession: SCV002764628.1
First in ClinVar: Dec 24, 2022 Last updated: Dec 24, 2022 |
Comment:
The variant APOE c.388T>C (p.Cys130Arg) was identified in dsSNP (ID: rs429358) and Clinvar (classified as pathogenic by OMIM). Farrer et al. reported in a meta-analysis … (more)
The variant APOE c.388T>C (p.Cys130Arg) was identified in dsSNP (ID: rs429358) and Clinvar (classified as pathogenic by OMIM). Farrer et al. reported in a meta-analysis (5930 patients who met the criteria for Alzheimer disease (AD), and 8607 controls) that the p.Cys130Arg variant (also known as the e4 variant) represented a major risk factor for AD, with the risk of AD significantly increased among Caucasian subjects with genotypes e2/e4 (OR=2.6, 95% CI=1.6-4.0), e3/e4 (OR=3.2, 95% CI=2.8-3.8), and e4/e4 (OR=14.9, 95% CI 10.8-20.6). The association between p.Cys130Arg and AD was stronger in Japanese subjects with genotypes e3/e4 (OR=5.6, 95% CI 3.0-8.0) and e4/e4 (OR=33.1, 95% CI=13.6-80.5) (Farrer_1997_9343467). Another study using data from 1968 African American patients with Late-Onset Alzheimer Disease (LOAD) and 3928 control patients showed that SNPs such as p.Cys130Arg in the APOE region were significant for association with LOAD (P = 5.5 × 10–47) (Reitz_2013_ 23571587). In addition, another study involving 45 patients with AD and 53 controls of Ashkenazi Jewish ancestry observed an association signal for AD risk for the variant p.Cys130Arg (P =1.02×E−08, OR=0.6, 95% CI: 4.20–26.8) (Freudenberg-Hua_2016_27260402). In vivo and in vitro functional studies also provide evidence that the p.Cys130Arg variant may have an effect on increased amyloid beta accumulation, neurotoxicity, and neuritic dystrophy (Youmans_2012_23060451, Liu_2014_29216449). The variant was identified in control databases in 28,637 of 200,920 chromosomes (2,091 homozygous) at a frequency of 14.2529%, and was observed at the highest frequency in the European-Non Finnish (NFE) population in 12,460 of 83,842 chromosomes (freq: 14.8613%) (Genome Aggregation Database March 6, 2019, v2.1.1). The p.Cys130Arg residue is conserved in mammals and computational analyses (MUT Assesor, PolyPhen-2, SIFT, MutationTaster, Revel, FATHMM, MetaLR, DANN) do not suggest a high likelihood of impact to the protein; this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (Splice AI exome) do not predict a deleterious effect on splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. However, this variant may act as a risk factor for Alzheimer's Disease. (less)
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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
HelpTitle | Author | Journal | Year | Link |
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APOE4 leads to blood-brain barrier dysfunction predicting cognitive decline. | Montagne A | Nature | 2020 | PMID: 32376954 |
Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease. | Ruskey JA | European journal of medical genetics | 2019 | PMID: 29842932 |
Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians. | Freudenberg-Hua Y | Human molecular genetics | 2016 | PMID: 27260402 |
Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans. | Reitz C | JAMA | 2013 | PMID: 23571587 |
Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy. | Liu CC | Nature reviews. Neurology | 2013 | PMID: 23296339 |
APOE4-specific changes in Aβ accumulation in a new transgenic mouse model of Alzheimer disease. | Youmans KL | The Journal of biological chemistry | 2012 | PMID: 23060451 |
Association between apolipoprotein E gene polymorphism and the risk of vascular dementia: a meta-analysis. | Yin YW | Neuroscience letters | 2012 | PMID: 22381401 |
Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations. | Choi JH | Molecular genetics and metabolism | 2011 | PMID: 21742527 |
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. | Sidransky E | The New England journal of medicine | 2009 | PMID: 19846850 |
Longitudinal modeling of age-related memory decline and the APOE epsilon4 effect. | Caselli RJ | The New England journal of medicine | 2009 | PMID: 19605830 |
Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset. | Nichols WC | Neurology | 2009 | PMID: 18987351 |
Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry. | Fairley C | Journal of inherited metabolic disease | 2008 | PMID: 18979180 |
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). | Hruska KS | Human mutation | 2008 | PMID: 18338393 |
APOE genotype and cognitive decline in a middle-aged cohort. | Blair CK | Neurology | 2005 | PMID: 15668424 |
Impact of APOE in mild cognitive impairment. | Farlow MR | Neurology | 2004 | PMID: 15557508 |
APOE-epsilon4 predicts dementia but not other psychiatric disorders after traumatic brain injury. | Koponen S | Neurology | 2004 | PMID: 15326261 |
Longitudinal changes in cognition and behavior in asymptomatic carriers of the APOE e4 allele. | Caselli RJ | Neurology | 2004 | PMID: 15184602 |
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms. | Montfort M | Human mutation | 2004 | PMID: 15146461 |
Accelerated evolution of brain atrophy and "black holes" in MS patients with APOE-epsilon 4. | Enzinger C | Annals of neurology | 2004 | PMID: 15048896 |
ApoE and clusterin cooperatively suppress Abeta levels and deposition: evidence that ApoE regulates extracellular Abeta metabolism in vivo. | DeMattos RB | Neuron | 2004 | PMID: 14741101 |
APOE genotype influences acquisition and recall following traumatic brain injury. | Crawford FC | Neurology | 2002 | PMID: 11940706 |
Apolipoprotein E epsilon 4 and short-term recovery from predominantly mild brain injury. | Liberman JN | Neurology | 2002 | PMID: 11940689 |
Accelerated hippocampal atrophy in Alzheimer's disease with apolipoprotein E epsilon4 allele. | Mori E | Annals of neurology | 2002 | PMID: 11835377 |
Dominant negative effects of apolipoprotein E4 revealed in transgenic models of neurodegenerative disease. | Buttini M | Neuroscience | 2000 | PMID: 10799751 |
Apolipoprotein E-epsilon4 genotype predicts a poor outcome in survivors of traumatic brain injury. | Friedman G | Neurology | 1999 | PMID: 9932938 |
Association of apolipoprotein E polymorphism with outcome after head injury. | Teasdale GM | Lancet (London, England) | 1997 | PMID: 10213549 |
Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. | Farrer LA | JAMA | 1997 | PMID: 9343467 |
Relative risk of Alzheimer disease and age-at-onset distributions, based on APOE genotypes among elderly African Americans, Caucasians, and Hispanics in New York City. | Tang MX | American journal of human genetics | 1996 | PMID: 8644717 |
Apolipoprotein E epsilon4 association with dementia in a population-based study: The Framingham study. | Myers RH | Neurology | 1996 | PMID: 8618665 |
Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. | Grace ME | The Journal of biological chemistry | 1994 | PMID: 8294487 |
Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. | Saunders AM | Neurology | 1993 | PMID: 8350998 |
Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. | Corder EH | Science (New York, N.Y.) | 1993 | PMID: 8346443 |
Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. | Tsuji S | Proceedings of the National Academy of Sciences of the United States of America | 1988 | PMID: 3353383 |
Isolation, characterization, and mapping to chromosome 19 of the human apolipoprotein E gene. | Das HK | The Journal of biological chemistry | 1985 | PMID: 3922972 |
Nucleotide sequence and structure of the human apolipoprotein E gene. | Paik YK | Proceedings of the National Academy of Sciences of the United States of America | 1985 | PMID: 2987927 |
Human E apoprotein heterogeneity. Cysteine-arginine interchanges in the amino acid sequence of the apo-E isoforms. | Weisgraber KH | The Journal of biological chemistry | 1981 | PMID: 7263700 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=APOE | - | - | - | - |
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Text-mined citations for rs429358 ...
HelpRecord last updated Oct 27, 2024
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.