ClinVar Genomic variation as it relates to human health
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
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.
Uncertain significance(9); Benign(2); Likely benign(4)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
Variation ID: 2552 Accession: VCV000002552.57
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 16p13.3 16: 3249468 (GRCh38) [ NCBI UCSC ] 16: 3299468 (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 Jun 28, 2015 Aug 4, 2024 Feb 1, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000243.3:c.1223G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000234.1:p.Arg408Gln missense NM_001198536.2:c.590G>A NP_001185465.2:p.Arg197Gln missense NC_000016.10:g.3249468C>T NC_000016.9:g.3299468C>T NG_007871.1:g.12160G>A LRG_190:g.12160G>A LRG_190t1:c.1223G>A LRG_190p1:p.Arg408Gln O15553:p.Arg408Gln - Protein change
- R197Q
- Other names
- R408Q
- Canonical SPDI
- NC_000016.10:3249467:C:T
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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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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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0.01717 (T)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.01127
Exome Aggregation Consortium (ExAC) 0.01295
The Genome Aggregation Database (gnomAD) 0.01456
1000 Genomes Project 30x 0.01499
1000 Genomes Project 0.01717
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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MEFV | No evidence available | No evidence available |
GRCh38 GRCh37 |
951 | 1250 |
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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Conflicting interpretations of pathogenicity (6) |
criteria provided, conflicting classifications
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Feb 1, 2024 | RCV000002661.38 | |
Benign/Likely benign (2) |
criteria provided, multiple submitters, no conflicts
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Feb 23, 2022 | RCV000218029.22 | |
Conflicting interpretations of pathogenicity (9) |
criteria provided, conflicting classifications
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Jan 26, 2024 | RCV000224408.46 | |
Uncertain significance (1) |
criteria provided, single submitter
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Mar 11, 2017 | RCV002362552.9 | |
Uncertain significance (1) |
criteria provided, single submitter
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Apr 4, 2022 | RCV002262551.10 |
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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Benign
(-)
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criteria provided, single submitter
Method: clinical testing
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NOT SPECIFIED
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV000303116.1
First in ClinVar: Oct 02, 2016 Last updated: Oct 02, 2016 |
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Uncertain significance
(Apr 27, 2017)
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criteria provided, single submitter
Method: clinical testing
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Familial Mediterranean fever
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV001277732.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. (less)
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Uncertain significance
(Sep 10, 2020)
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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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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001712844.1
First in ClinVar: Jun 15, 2021 Last updated: Jun 15, 2021 |
Number of individuals with the variant: 4
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Uncertain significance
(Apr 04, 2022)
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criteria provided, single submitter
Method: clinical testing
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Autoinflammatory syndrome
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, The Hospital for Sick Children
Accession: SCV002543693.1
First in ClinVar: Jul 09, 2022 Last updated: Jul 09, 2022 |
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Uncertain significance
(Mar 23, 2022)
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criteria provided, single submitter
Method: clinical testing
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Familial Mediterranean fever
Affected status: yes
Allele origin:
germline
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MGZ Medical Genetics Center
Accession: SCV002580762.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022
Comment:
ACMG criteria applied: PM3, PM5
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Number of individuals with the variant: 3
Sex: female
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Uncertain significance
(Apr 21, 2023)
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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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Revvity Omics, Revvity
Accession: SCV003810939.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
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Uncertain significance
(Jan 26, 2024)
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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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Clinical Genetics and Genomics, Karolinska University Hospital
Accession: SCV001450349.2
First in ClinVar: Dec 12, 2020 Last updated: Feb 04, 2024 |
Number of individuals with the variant: 9
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Likely benign
(Feb 01, 2024)
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criteria provided, single submitter
Method: clinical testing
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Familial Mediterranean fever
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000629018.9
First in ClinVar: Dec 26, 2017 Last updated: Feb 20, 2024 |
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Benign
(Nov 17, 2023)
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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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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000604176.3
First in ClinVar: Sep 28, 2017 Last updated: Feb 20, 2024 |
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Uncertain significance
(Jul 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: SCV000493147.18
First in ClinVar: Jun 08, 2016 Last updated: Aug 04, 2024 |
Number of individuals with the variant: 2
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Likely Benign
(Jun 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: not provided
Allele origin:
germline
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Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
Accession: SCV000281405.1
First in ClinVar: Jun 08, 2016 Last updated: Jun 08, 2016 |
Comment:
Converted during submission to Likely benign.
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Uncertain significance
(May 18, 2021)
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criteria provided, single submitter
Method: clinical testing
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Familial Mediterranean fever
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV001623488.1
First in ClinVar: May 23, 2021 Last updated: May 23, 2021 |
Sex: mixed
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Likely benign
(Feb 23, 2022)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000696042.4
First in ClinVar: Jun 08, 2016 Last updated: Mar 12, 2022 |
Comment:
Variant summary: MEFV c.1223G>A (p.Arg408Gln) results in a conservative amino acid change located in the B-box-type zinc finger (IPR000315) of the encoded protein sequence. Five … (more)
Variant summary: MEFV c.1223G>A (p.Arg408Gln) results in a conservative amino acid change located in the B-box-type zinc finger (IPR000315) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. A recent report utilizing the meta predictor tool, REVEL (Rare Exome Variant Ensemble Learner) to assess the pathogenicity of MEFV variants with ambiguous classification proposed a likely benign outcome for this variant (Accetturo_2019). In this study, REVEL scores demonstrated a good correlation with the consensus classification of the International Study Group for Systemic Auto Inflammatory Diseases. The observed variant frequency within East Asian control individuals in the gnomAD database is approximately 2.45 fold of the estimated maximal expected allele frequency for a pathogenic variant in MEFV causing Familial Mediterranean Fever phenotype (0.022), strongly suggesting that the variant is a benign polymorphism found primarily in populations of East Asian origin. When examined across all populations represented in the gnomAD database, the variant did not exceed the estimated maximal expected allele frequency for a disease causing MEFV allele however, in the European sub-cohort, 20 homozygous occurrences were observed, suggesting a benign nature for the variant across ethnicities. c.1223G>A has been extensively reported in databases and in the literature in individuals affected with Familial Mediterranean Fever or unexplained fevers, frequently as part of a haplotype with p.P369S (example, Ryan_2010, Migita_2014, Stoffels_2014, Pieri_2015, Hageman_2019). These report(s) do not provide unequivocal conclusions about association of the variant with Familial Mediterranean Fever. This haplotype has been reported in the homozygous state in controls as well (3 occurrences in 1000G) supporting the neutral nature of the complex allele. In two families (Feng 2009), the variant or its complex with P369S was shown to not co-segregate in all affected family members. The complex variant was also found in compound heterozygous state with a known pathogenic variant in unaffected parents (Moussa_2013). At-least one functional study further supports a neutral nature for the variant. This substitution is located in exon 3 encoding a B-box domain and is necessary for interactions with proline serine threonine phosphatase interacting protein 1 (PSTPIP1) (Ryan_2010). The ability of the MEFV to bind PSTPIP1 was not affected by the variant in isolation or as a part of a complex allele. Additionally, in silico structural modeling predicted that the variant does not result in alteration to the secondary structure elements potentially required to maintain the structural integrity of the B-box domain (Ryan_2010). Multiple clinical diagnostic laboratories and the Gene Reviews database have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. These submitters have reported the variant with conflicting assessments ranging from Likely Benign (n=3), Uncertain Significance (n=5), Likely Pathogenic (n=2) to Pathogenic (n=1). Of note, one of these submitters has recently re-evaluated this variant from Likely Pathogenic to a VUS but not updated their ClinVar record. We have considered their assessment as a VUS in this context. Some submitters have provided overlapping evidence utilized in the context of our evaluation. We have followed this variant for over four years and previously classified it as a VUS-possibly benign variant. In our review of published evidence spanning over 20 years (1999-2019), the majority of evidence appears to point toward a non-pathogenic outcome however more data is required to conclusively determine the clinical consequences of this variant. Therefore, based on the evidence outlined above, this variant in isolation retains its classification as likely benign. (less)
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Likely benign
(Mar 10, 2023)
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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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GeneDx
Accession: SCV000279047.11
First in ClinVar: May 29, 2016 Last updated: Sep 30, 2023 |
Comment:
See Variant Classification Assertion Criteria.
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Uncertain significance
(Mar 11, 2017)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002656578.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The p.R408Q variant (also known as c.1223G>A), located in coding exon 3 of the MEFV gene, results from a G to A substitution at nucleotide … (more)
The p.R408Q variant (also known as c.1223G>A), located in coding exon 3 of the MEFV gene, results from a G to A substitution at nucleotide position 1223. The arginine at codon 408 is replaced by glutamine, an amino acid with highly similar properties. This variant is often seen in cis with p.P369S, and has been identified in individuals with typical and atypical familial Mediterranean fever (FMF) as well as in healthy controls (Cazeneuve C et al. Am. J. Hum. Genet., 1999 Jul;65:88-97; Feng J et al. PLoS ONE, 2009 Dec;4:e8480; Ryan JG et al. Ann. Rheum. Dis., 2010 Jul;69:1383-8; Migita K et al. Medicine (Baltimore), 2014 May;93:158-64). The p.P369S and p.R408Q variants were found to be in strong linkage disequilibrium; genetic and functional data suggest that the p.[P369S; R408Q] complex allele is unlikely to represent a classic FMF disease-associated mutation, and is more likely to be a high frequency low-penetrance mutation (Ryan JG et al. Ann. Rheum. Dis., 2010 Jul;69:1383-8; Migita K et al. Medicine (Baltimore), 2014 May;93:158-64). Based on data from ExAC, the A allele has an overall frequency of approximately 1.304% (1375/105484) total alleles studied. The highest observed frequency was 5.315% (418/7864) of East Asian alleles. This amino acid position is poorly conserved in available vertebrate species. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Based on the available evidence to date, the clinical significance of this alteration remains unclear (Ryan et al. Rheum Dis. 2010;69(7):1383-8). (less)
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Uncertain significance
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
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: SCV001550949.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The MEFV p.Arg408Gln variant is a well-studied variant in association with Familial Mediterranean Fever (FMF) and has been identified in 159 of 8198 proband chromosomes … (more)
The MEFV p.Arg408Gln variant is a well-studied variant in association with Familial Mediterranean Fever (FMF) and has been identified in 159 of 8198 proband chromosomes from multiple patients with the FMF phenotype (freq=0.019), however the role of this variant in disease is unclear (Cazeneuve_1999_PMID:10364520; Bonyadi_2009_PMID: 19863562; Migita_2014_PMID:24797171; Tsuchiya-Suzuki_2009_PMID:19531756; Migita_2012_PMID:22467954; De Pieri_2015_PMID:25866490; Lainka_2012_PMID:22903357; Berdeli_2011_PMID:21413889; Migita_2016_PMID:27473114). The variant was reported in dbSNP (ID: rs11466024), LOVD 3.0 and ClinVar (classified in relation to FMF as benign [Prevention Genetics, 2017], likely benign [Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, 2015], Likely pathogenic [EGL Genetic Diagnostics, 2017], Pathogenic [GeneReviews, 2016], Uncertain significance [GeneDx 2017; Praxis fuer Humar 2016; Invitae 2018; Integrated Genetics/Laboratory Corporation of America 2016; OMIM 2013; Integrated Genetics/Laboratory Corporation of America 2015]). The variant was not identified in the Cosmic database. The variant was identified in control databases in 3771 of 282186 chromosomes (53 homozygous) at a frequency of 0.013364 increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: East Asian in 1072 of 19934 chromosomes (freq: 0.05378), Ashkenazi Jewish in 301 of 10342 chromosomes (freq: 0.0291), South Asian in 455 of 30606 chromosomes (freq: 0.01487), European (Finnish) in 363 of 25074 chromosomes (freq: 0.01448), Other in 94 of 7204 chromosomes (freq: 0.01305), European (non-Finnish) in 1175 of 128692 chromosomes (freq: 0.00913), Latino in 208 of 35416 chromosomes (freq: 0.005873), and African in 103 of 24918 chromosomes (freq: 0.004134). The R408Q variant is often found as a complex allele with the MEFV P369S variant. Bonyadi et al. (2009) identified the R408Q variant in 7/524 Azeri Turkish FMF patients as a complex allele with P369S; 4 of these patients were also compound heterozygous for another MEFV variant (Bonyadi_2009_PMID: 19863562). Migita et al. (2014) also identified the variant as a complex allele with P369S variant in 9/178 patients with typical FMF and 28/133 patients with atypical FMF; in 8 of these typical FMF and 15 of these atypical FMF patients the variant was present in the compound heterozygous state with at least one other MEFV variant (Migita_2014_PMID:24797171). A family with a severe autoinflammatory phenotype underwent testing of a 120 gene inflammasome-related panel which revealed a P369S/R408Q complex allele in the MEFV gene inherited from the father and found in both affected children as well as a T577A in the MEFV gene inherited from the affected mother and also found in both affected children (Stoffels_2014_PMID:23505238). Ryan et al. (2010) identified 35/40 symptomatic and 4 asymptomatic FMF family members with the R408Q/P369S complex allele. Functional studies of these variants did not demonstrate a significant difference from the wildtype in the ability of pyrin to bind to PSTPIP1, therefore the role of these variants in FMF and their potential functional impact is not known (Ryan_2010_PMID: 19934105). The variant occurs outside of the splicing consensus sequence however 3 of 4 in silico or computational prediction software programs (MaxEntScan, NNSPLICE, GeneSplicer) predict the creation of a new 5’ splice site. The p.Arg408 residue is not highly conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein; however, this information is not predictive enough to rule out pathogenicity. 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, although we would suggest that this variant may be a low penetrant allele that can contribute to FMF in an autosomal recessive manner. (less)
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Uncertain significance
(Jan 01, 2013)
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no assertion criteria provided
Method: literature only
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RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000022819.5
First in ClinVar: Apr 04, 2013 Last updated: Dec 31, 2022 |
Comment on evidence:
This variant, formerly titled FAMILIAL MEDITERRANEAN FEVER (249100), has been reclassified based on the findings of Berg et al. (2013). In a genotypic study of … (more)
This variant, formerly titled FAMILIAL MEDITERRANEAN FEVER (249100), has been reclassified based on the findings of Berg et al. (2013). In a genotypic study of 90 Armenian FMF (249100) patients from 77 unrelated families, Cazeneuve et al. (1999) identified a novel mutation, arg408-to-gln (R408Q) in the MEFV gene. The mutation was identified in 1 patient in cis with the E148Q (608107.0005) and P369S (608107.0014) mutations. Berg et al. (2013) reclassified the R408Q mutation as 'considered to imply carrier status' for a recessive disorder. They noted that the R408Q and P369S (608107.0014) mutations had been reported in cis as a single allele resulting in a highly variable clinical phenotype. (less)
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not provided
(-)
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no classification provided
Method: literature only
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Familial Mediterranean fever
Affected status: yes
Allele origin:
germline
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GeneReviews
Accession: SCV000484961.2
First in ClinVar: Jul 03, 2016 Last updated: Oct 01, 2022 |
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Likely pathogenic
(Sep 21, 2017)
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Flagged submission
flagged submission
Method: clinical testing
Reason: Outlier claim with insufficient supporting evidence
Source: ClinGen
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not provided
Affected status: unknown
Allele origin:
germline
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Eurofins Ntd Llc (ga)
Accession: SCV000228829.5
First in ClinVar: Jun 28, 2015 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 32
Sex: mixed
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Flagged submissions do not contribute to the aggregate classification or review status for the variant. Learn more |
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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Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever. | Accetturo M | Rheumatology (Oxford, England) | 2020 | PMID: 31411330 |
Familial Mediterranean Fever (FMF): a single centre retrospective study in Amsterdam. | Hageman IMG | The Netherlands journal of medicine | 2019 | PMID: 31264586 |
Coexistence of Mixed Connective Tissue Disease and Familial Mediterranean Fever in a Japanese Patient. | Fujita Y | Internal medicine (Tokyo, Japan) | 2019 | PMID: 30996171 |
Novel presentations of periodic fever syndromes: Discrepancies between genetic and clinical diagnoses. | Hoang TK | European journal of rheumatology | 2019 | PMID: 30407166 |
SNPs in inflammatory genes CCL11, CCL4 and MEFV in a fibromyalgia family study. | Zhang Z | PloS one | 2018 | PMID: 29927949 |
The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T). | Gumus E | Journal of clinical medicine | 2018 | PMID: 29735907 |
Five Cases of Familial Mediterranean Fever in Japan: The Relationship with MEFV Mutations. | Kimura K | Internal medicine (Tokyo, Japan) | 2018 | PMID: 29526930 |
Could familial Mediterranean fever gene mutations be related to PFAPA syndrome? | Celiksoy MH | Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology | 2016 | PMID: 26360812 |
Familial Mediterranean Fever. | Adam MP | - | 2016 | PMID: 20301405 |
Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study. | De Pieri C | Pediatric rheumatology online journal | 2015 | PMID: 25866490 |
Familial Mediterranean fever: genotype-phenotype correlations in Japanese patients. | Migita K | Medicine | 2014 | PMID: 24797171 |
MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease. | Stoffels M | Annals of the rheumatic diseases | 2014 | PMID: 23505238 |
Rare MEFV variants are not associated with risk to develop multiple sclerosis and severity of disease. | Pauwels I | Multiple sclerosis (Houndmills, Basingstoke, England) | 2013 | PMID: 23325590 |
A 17 year old with isolated proximal tibiofibular joint arthritis. | Canna SW | Pediatric rheumatology online journal | 2013 | PMID: 23302539 |
An informatics approach to analyzing the incidentalome. | Berg JS | Genetics in medicine : official journal of the American College of Medical Genetics | 2013 | PMID: 22995991 |
Familial Mediterranean fever in Germany: epidemiological, clinical, and genetic characteristics of a pediatric population. | Lainka E | European journal of pediatrics | 2012 | PMID: 22903357 |
Clinical relevance of MEFV gene mutations in Japanese patients with unexplained fever. | Migita K | The Journal of rheumatology | 2012 | PMID: 22467954 |
Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a "heterozygote advantage" in Turkey? | Berdeli A | Genetic testing and molecular biomarkers | 2011 | PMID: 21413889 |
Colchicine-responsive chronic recurrent multifocal osteomyelitis with MEFV mutations: a variant of familial Mediterranean fever? | Shimizu M | Rheumatology (Oxford, England) | 2010 | PMID: 20525738 |
Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein. | Ryan JG | Annals of the rheumatic diseases | 2010 | PMID: 19934105 |
Endothelial progenitor cells in chronic kidney disease. | Bahlmann FH | Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association | 2010 | PMID: 19934082 |
Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels. | Feng J | PloS one | 2009 | PMID: 20041150 |
MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever. | Bonyadi M | Clinical genetics | 2009 | PMID: 19863562 |
Clinical and genetic features of familial Mediterranean fever in Japan. | Tsuchiya-Suzuki A | The Journal of rheumatology | 2009 | PMID: 19531756 |
Genetic screening of familial Mediterranean fever mutations in the Palestinian population. | Ayesh SK | Saudi medical journal | 2005 | PMID: 15951859 |
MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. | Cazeneuve C | American journal of human genetics | 1999 | PMID: 10364520 |
Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. | Aksentijevich I | American journal of human genetics | 1999 | PMID: 10090880 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MEFV | - | - | - | - |
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Text-mined citations for rs11466024 ...
HelpRecord last updated Aug 18, 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.