ClinVar Genomic variation as it relates to human health
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
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(11); Benign(4); Likely benign(6)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
Variation ID: 2542 Accession: VCV000002542.100
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 16p13.3 16: 3254626 (GRCh38) [ NCBI UCSC ] 16: 3304626 (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 Oct 27, 2014 May 1, 2024 Mar 25, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000243.3:c.442G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000234.1:p.Glu148Gln missense NM_001198536.2:c.277+1685G>C intron variant NC_000016.10:g.3254626C>G NC_000016.9:g.3304626C>G NG_007871.1:g.7002G>C LRG_190:g.7002G>C LRG_190t1:c.442G>C LRG_190p1:p.Glu148Gln O15553:p.Glu148Gln - Protein change
- Other names
- E148Q
- Canonical SPDI
- NC_000016.10:3254625:C:G
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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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0.12640 (G)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.02112
Trans-Omics for Precision Medicine (TOPMed) 0.02820
The Genome Aggregation Database (gnomAD), exomes 0.07110
Exome Aggregation Consortium (ExAC) 0.09001
1000 Genomes Project 30x 0.11993
1000 Genomes Project 0.12640
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
Help
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 |
949 | 1246 |
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 (11) |
criteria provided, conflicting classifications
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Mar 25, 2024 | RCV000002651.44 | |
Uncertain significance (1) |
criteria provided, conflicting classifications
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Dec 7, 2023 | RCV000218652.32 | |
Conflicting interpretations of pathogenicity (11) |
criteria provided, conflicting classifications
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Nov 21, 2023 | RCV000513398.42 | |
Uncertain significance (3) |
criteria provided, multiple submitters, no conflicts
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Jun 9, 2022 | RCV000761446.12 | |
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
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Oct 4, 2020 | RCV000768024.12 | |
Benign (1) |
criteria provided, single submitter
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Jul 12, 2016 | RCV002326658.9 | |
See cases
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Uncertain significance (1) |
criteria provided, single submitter
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Mar 30, 2022 | RCV002251861.9 |
Uncertain significance (1) |
criteria provided, single submitter
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May 3, 2022 | RCV002262542.10 | |
Benign (1) |
criteria provided, single submitter
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Oct 13, 2022 | RCV003224086.8 | |
MEFV-related disorder
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Likely benign (1) |
criteria provided, single submitter
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Apr 6, 2022 | RCV004528067.1 |
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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Uncertain significance
(Dec 30, 2017)
|
criteria provided, single submitter
Method: curation
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Familial Mediterranean fever, autosomal dominant
Affected status: yes
Allele origin:
unknown
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Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
Accession: SCV000891531.1
First in ClinVar: Mar 24, 2019 Last updated: Mar 24, 2019 |
Geographic origin: Middle East
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Likely benign
(Apr 27, 2019)
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criteria provided, single submitter
Method: clinical testing
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Familial Mediterranean fever
Affected status: yes
Allele origin:
unknown
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Genomic Research Center, Shahid Beheshti University of Medical Sciences
Accession: SCV000930490.1
First in ClinVar: Aug 04, 2019 Last updated: Aug 04, 2019 |
Geographic origin: Iran
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Likely benign
(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: SCV000396780.3
First in ClinVar: Dec 06, 2016 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
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Uncertain significance
(Jan 24, 2022)
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criteria provided, single submitter
Method: clinical testing
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Familial Mediterranean fever
Affected status: yes
Allele origin:
unknown
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Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV002072564.1
First in ClinVar: Feb 05, 2022 Last updated: Feb 05, 2022 |
Comment:
Variant identified together with variant Met694Val (phase unknown) in individual with clinical FMF phenotype
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Uncertain significance
(May 03, 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: SCV002543456.1
First in ClinVar: Jul 09, 2022 Last updated: Jul 09, 2022 |
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Likely benign
(Apr 30, 2017)
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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: SCV000608745.5
First in ClinVar: Oct 30, 2017 Last updated: Dec 24, 2022 |
Number of individuals with the variant: 2
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Uncertain significance
(Dec 07, 2023)
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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: SCV000696072.9
First in ClinVar: Oct 30, 2017 Last updated: Feb 04, 2024 |
Comment:
Variant summary: MEFV c.442G>C (p.Glu148Gln) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign … (more)
Variant summary: MEFV c.442G>C (p.Glu148Gln) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.072 in 236468 control chromosomes in the gnomAD database, including 2070 homozygotes, well above the ACMG guideline of 5% threshold for an allele, strongly suggesting this variant lies in the benign spectrum. Particularly, this variant was found at a frequency of 28% in the Asian population (East and South Asian) in gnomAD, including 2013 homozygous occurrences. The population-based studies, therefore, strongly support the hypothesis that E148Q is a benign polymorphism and not a disease-causing mutation. But there are numerous studies that associate the p.E148Q variant with FMF in certain ethnic backgrounds and report that it is a low penetrance pathogenic variant in specific genetic backgrounds (Ben-Chetrit_2000, Tchernitchko_2003). Apart from Asian population, it is relatively rare in other control populations: frequencies are in the range of 2% in European and African cohorts of gnomAD. This variant is predominant in Ashkenazi and Iraqi Jews, Armenians, and Turks, and has been associated with a generally mild form of FMF (Aksentijevich_1999, Tchernitchko_2003). This variant is regarded as one of the five mutations (p.Met680Ile (G>C), p.Met694Val, p.Met694Ile (G>T), and p.Val726Ala on exon 10, and p.Glu148Gln) that explain 85% of FMF cases in Middle East. In multiple unrelated patients, this variant also has been reported to be in cis with a pathogenic variant including V726A, M694V, M694I (Bernot_1998, Topaloglu_2005, Aksentijevich_1999). A recent publication reported this variant in association with increased levels of Amyloid A in Egyptian patients (Mansour_2019). It is worth noting that the majority of publications citing this variant in FMF cohorts do not perform comprehensive MEFV analysis, thus pathogenic variants may have been missed, which would explain the similar observed allele frequencies in patients and unaffected controls. Recently, the SHARE (Single Hub and Access point for pediatric Rheumatology in Europe) initiative has developed evidence-based recommendations for genetic diagnosis of FMF and according to these recommendations, the E148Q variant is common, of unknown pathogenic significance and, as the only MEFV variant, does not support the genetic diagnosis of FMF. Data obtained from a recent study of the largest paediatric FMF cohort in Israel, suggest that a single heterozygous E148Q variant is highly unlikely to aggravate the FMF phenotype. Patients with the variant exhibited a milder phenotype, since most had questionable FMF diagnosis and were asymptomatic during prolonged follow-up off colchicine treatment (Tirosh_2021). On the other hand, another recent study using controls and patients of North African Jewish descent, determined that the penetrance of p.[Met694Val];[Glu148Gln] is more than 17 times higher than p.[Met694Val];[=], indicating an active role for p.Glu148Gln when combined with p.Met694Val (Eyal_2020). One publication reports this variant causes less suppression of IL-8 secretion in cells compared to WT (Sugiyama_2014) which may reflect the activity in FMF arthritis. Another publication reported IL-1 beta and IL-18 ratios of E148Q similar to controls in an ex vivo colchicine assay, while colchicine was not beneficial in patients with this variant (Van Gorp_2020). The following publications have been ascertained in the context of this evaluation (PMID: 11464238, 20534143, 10090880, 9668175, 18097735, 10737995, 11938447, 12955725, 15458961, 21598804, 25073670, 24433404, 25261100, 25393764, 25866490, 26131005, 24318677, 27457448, 29080837, 29599418, 29314707, 32741030, 33497256, 30915208, 15024140, 33560333, 32312770, 35780723, 35490273). Twenty one submitters have provided clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic (n=1), benign/likely benign (n=10) and uncertain significance (n=10). In 2018, the experts international study group for systemic autoinflammatory diseases (INSAID) reported a validated classification of uncertain significance for the variant (Van Gijn_2018). Taken together, the p.Glu148Gln variant could be a very low penetrant pathogenic variant in certain genetic as well as ethnic backgrounds; however additional information is needed to fully assess its clinical significance. Based on the evidence outlined above, the variant retained its classification as uncertain significance. (less)
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Likely benign
(Apr 06, 2022)
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criteria provided, single submitter
Method: clinical testing
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MEFV-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV000303125.2
First in ClinVar: Oct 02, 2016 Last updated: Mar 16, 2024 |
Comment:
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
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Uncertain significance
(Mar 25, 2024)
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criteria provided, single submitter
Method: research
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Familial Mediterranean fever
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Accession: SCV004805289.2
First in ClinVar: Mar 30, 2024 Last updated: Apr 06, 2024 |
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Benign
(Jul 12, 2016)
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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: SCV002628289.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation … (more)
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
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Benign
(May 28, 2019)
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criteria provided, single submitter
Method: clinical testing
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Familial Mediterranean fever
Affected status: unknown
Allele origin:
unknown
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Mendelics
Accession: SCV001139889.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
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Uncertain significance
(Oct 04, 2020)
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criteria provided, single submitter
Method: clinical testing
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Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Affected status: yes
Allele origin:
germline
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Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
Accession: SCV001448263.1
First in ClinVar: Dec 07, 2020 Last updated: Dec 07, 2020 |
Sex: female
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Uncertain significance
(Mar 20, 2020)
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criteria provided, single submitter
Method: clinical testing
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Familial Mediterranean fever, autosomal dominant
Familial Mediterranean fever
Affected status: unknown
Allele origin:
germline
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Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
Accession: SCV000898827.2
First in ClinVar: Apr 25, 2019 Last updated: Jan 09, 2021 |
Comment:
MEFV NM_000243.2 exon 2 p.Glu148Gln (c.442G>C): This variant has been well reported in the literature and identified in several individuals with Familial Mediteranean Fever (FMF) … (more)
MEFV NM_000243.2 exon 2 p.Glu148Gln (c.442G>C): This variant has been well reported in the literature and identified in several individuals with Familial Mediteranean Fever (FMF) as homozygous, compound heterozygous or compound heterozygous as part of a complex allele containing this variant and p.Val726Ala, with the latter found in trans with a different pathogenic variant (Bernot 1998 PMID:9668175, Kogan 2001 PMID:11484206, Gershoni-Baruch 2002 PMID:11938447). However, several publications claim that this variant is a benign polymorphism, suggesting equal incidence of this variant in affected individuals and control populations (Ben-Chetrit 2000 PMID:10737995, Tchernitchko 2003 PMID:12955725, Zaks 2003 PMID:12929299, Marek-Yagel 2009 PMID:19820229). A GeneReviews entry for FMF also notes the discrepant interpretation of this variant (Shohat 2016 PMID:20301405). This variant is present in 3% (5347/18284) of East Asian alleles, including 779 homozygotes, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs3743930). This frequency is present at similar percentages among alleles of other ethnicities as well. This variant is present in ClinVar (Variation ID:2542). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. (less)
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Uncertain significance
(Feb 08, 2019)
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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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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001134282.3
First in ClinVar: Jan 05, 2020 Last updated: Jan 03, 2022 |
|
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Uncertain significance
(Mar 30, 2022)
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criteria provided, single submitter
Method: clinical testing
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See cases
Affected status: yes
Allele origin:
germline
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Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
Accession: SCV002523073.1
First in ClinVar: Jun 11, 2022 Last updated: Jun 11, 2022 |
Comment:
ACMG classification criteria: PM3, BS2
Clinical Features:
Recurrent infections (present) , Recurrent fever (present) , Recurrent aphthous stomatitis (present) , Immunodeficiency (present) , Failure to thrive (present)
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Uncertain significance
(Jun 09, 2022)
|
criteria provided, single submitter
Method: clinical testing
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Familial Mediterranean fever, autosomal dominant
(Autosomal dominant inheritance)
Affected status: not provided
Allele origin:
germline
|
Department of Human Genetics, Hannover Medical School
Accession: SCV002525495.1
First in ClinVar: Jun 11, 2022 Last updated: Jun 11, 2022 |
Clinical Features:
Fever (present)
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Uncertain significance
(Apr 11, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Familial Mediterranean fever
Affected status: yes
Allele origin:
germline
|
MGZ Medical Genetics Center
Accession: SCV002579058.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022
Comment:
ACMG criteria applied: PM3, PM5
|
Number of individuals with the variant: 6
Sex: male
|
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Likely benign
(Nov 15, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000279030.10
First in ClinVar: May 29, 2016 Last updated: Dec 24, 2022 |
Comment:
See Variant Classification Assertion Criteria.
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Benign
(Oct 13, 2022)
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criteria provided, single submitter
Method: clinical testing
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Acute febrile neutrophilic dermatosis
Familial Mediterranean fever Familial Mediterranean fever, autosomal dominant
Affected status: unknown
Allele origin:
germline
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
Accession: SCV003920210.1
First in ClinVar: Apr 30, 2023 Last updated: Apr 30, 2023 |
Comment:
MEFV NM_000243.2 exon 2 p.Glu148Gln (c.442G>C): This variant has been well reported in the literature and identified in several individuals with Familial Mediteranean Fever (FMF) … (more)
MEFV NM_000243.2 exon 2 p.Glu148Gln (c.442G>C): This variant has been well reported in the literature and identified in several individuals with Familial Mediteranean Fever (FMF) as homozygous, compound heterozygous or compound heterozygous as part of a complex allele containing this variant and p.Val726Ala, with the latter two found in trans with a different pathogenic variant (Bernot 1998 PMID:9668175, Kogan 2001 PMID:11484206, Gershoni-Baruch 2002 PMID:11938447). However, several publications claim that this variant is a benign polymorphism, suggesting equal incidence of this variant in affected individuals and control populations (Ben-Chetrit 2000 PMID:10737995, Tchernitchko 2003 PMID:12955725, Zaks 2003 PMID:12929299, Marek-Yagel 2009 PMID:19820229). A GeneReviews entry for FMF also notes the discrepant interpretation of this variant (Shohat 2016 PMID:20301405). This variant is present in 3% (5347/18284) of East Asian alleles, including 779 homozygotes, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs3743930). This frequency is present at similar percentages among alleles of other ethnicities as well. This variant is present in ClinVar (Variation ID:2542). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. (less)
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Likely benign
(Feb 01, 2024)
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criteria provided, single submitter
Method: clinical testing
|
Familial Mediterranean fever
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000753982.7
First in ClinVar: May 03, 2018 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces glutamic acid with glutamine at codon 148 of the MEFV protein (p.Glu148Gln). The glutamic acid residue is moderately conserved and there … (more)
This sequence change replaces glutamic acid with glutamine at codon 148 of the MEFV protein (p.Glu148Gln). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is present in population databases (rs3743930, gnomAD 29%) including 2140 homozygotes. This variant has been reported in the literature in many individuals affected with familial mediterranean fever (FMF) as homozygous, compound heterozygous in the presence of a second pathogenic variant, heterozygous without an identified second pathogenic variant, and as part of complex genotypes with more than two identified pathogenic variants (PMID: 11938447, 15717684, 15458961, 18662100, 19820229, 24797171, 26215181). Many studies of this variant have small sample sizes and/or only examine selected exons or variants in the MEFV gene. The p.Glu148Gln variant has also been reported in many asymptomatic individuals (PMID: 12955725, 19820229, 23907647), including those retrospectively identified from non-MEFV carrier screening programs (PMID: 19929404, 10090880). Recent studies comparing the frequency of p.Glu148Gln in cases and controls or unaffected relatives have not found a significant difference in these two groups, although none of these studies have included greater than 1,000 cases and 1,000 controls (PMID: 10737995, 19820229, 23907647). A population level analysis of MEFV has suggested that the frequency of calculated disease prevalence only matches observed prevalence of disease if the p.Glu148Gln variant is excluded or considered a very low penetrant allele (PMID: 23844200). Several segregation analyses have shown partial or lack of segregation in affected families (PMID: 10737995, 12955725, 16439437). ClinVar contains an entry for this variant (Variation ID: 2542). In one experimental study this variant had a decreased effect in suppressing IL-8 secretion compared to wild-type in vitro and in blood mononuclear cells from affected individuals compared to healthy controls (PMID: 24318677). The clinical significance of these results is unknown. An ex vivo colchicine functional assay showed that the functional response in patients with this variant was similar to healthy controls and these patients did not respond to treatment with colchicine (PMID: 32312770). In summary, while this variant has been reported in the literature in many individuals affected with FMF and may have an effect on protein function, it is observed in a high frequency in population databases and in healthy controls and does not segregate with disease in several families. Based on the available evidence it has been classified as likely benign. (less)
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Benign
(Nov 21, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000604166.10
First in ClinVar: Sep 28, 2017 Last updated: Feb 20, 2024 |
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Uncertain significance
(Jan 01, 2002)
|
no assertion criteria provided
Method: literature only
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RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000022809.4
First in ClinVar: Apr 04, 2013 Last updated: Jun 22, 2020 |
Comment on evidence:
This variant, formerly titled FAMILIAL MEDITERRANEAN FEVER (FMF; 249100), has been reclassified based on the findings of Medlej-Hashim et al. (2002). Bernot et al. (1998) … (more)
This variant, formerly titled FAMILIAL MEDITERRANEAN FEVER (FMF; 249100), has been reclassified based on the findings of Medlej-Hashim et al. (2002). Bernot et al. (1998) observed a G-to-C transversion in exon 2 of the MEFV gene, resulting in a glu148-to-gln (E148Q) substitution, as a novel mutation among 120 apparently nonfounder FMF chromosomes. The mutation was found on 29 of 120 (24%) of patient chromosomes and on 3 of 131 control chromosomes. Aksentijevich et al. (1999) found that a high gene frequency of this glu148-to-gln (E148Q) recessive mutation and reduced penetrance accounted for the anomalous pattern of inheritance in an Ashkenazi family previously reported by Yuval et al. (1995) as an unusual case of dominantly inherited FMF. Yilmaz et al. (2001) found that the E148Q allele had a frequency of 3.2% among 450 Turkish FMF patients. The carrier frequency in a Turkish population sample of 100 was 12%. Medlej-Hashim et al. (2002) pointed out that E148Q may be a polymorphism. Its role in connection with mutations on the other allele, the MEFV locus, and on a second mutation on the same allele is unclear. Furthermore, the E148V mutation (608107.0017), found in 1 Lebanese patient by Medlej-Hashim et al. (2002), gives the same digestion pattern on Southern blot as does E148Q when AvaI restriction enzyme is used in the RFLP detection method. Otsuka et al. (2019) reported a 32-year-old Japanese man with adult-onset fever, tonsillitis, and skin rash associated with leukocytosis, increased C-reactive protein, increased ferritin, and activation of monocytes. His rash consisted of painless papules and plaques. Skin biopsy showed neutrophilic dermatosis, and he was diagnosed clinically with adult-onset Sweet disease (see 608068). He showed a favorable response to colchicine and low-dose corticosteroids. Genetic analysis identified a heterozygous E148Q variant in the MEFV gene, which the authors noted is found in about 20% of healthy individuals in Japan. Functional studies of the variant were not performed, but Otsuka et al. (2019) suggested that the variant may have contributed to the development of the disorder. (less)
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Uncertain significance
(-)
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no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001552621.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The MEFV p.Glu148Gln variant was identified in 112 of 2364 proband chromosomes (frequency: 0.047) from individuals or families with Familial Mediterranean fever (FMF) or hereditary … (more)
The MEFV p.Glu148Gln variant was identified in 112 of 2364 proband chromosomes (frequency: 0.047) from individuals or families with Familial Mediterranean fever (FMF) or hereditary recurrent fevers (HRFs) (Neocleous_2015_PMID:25393764; Solak_2008_PMID:18662100; Tchernitchko_2003_PMID:12955725). However Tchernitchko et al. (2003) identified the variant at a similar frequency in Sephardic Jewish FMF patients as well as their unaffected relatives (Tchernitchko_2003_PMID:12955725). Further, one study found that the E148Q vairant segregated with disease in only 3 of 18 families with FMF (Tchernitchko_2006_PMID:16439437). Milder FMF has been reported in patients homozygous for E148Q compared to other MEFV variants (Topaloglu_2018_PMID:27457448). The variant was identified in dbSNP (ID: rs3743930), ClinVar (classified as pathogenic once, a VUS 8 times, likely benign 3 times and benign once) and LOVD 3.0 (classified as a VUS). The variant was also identified in control databases in 17464 of 265578 chromosomes (2140 homozygous) at a frequency of 0.065758 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 5580 of 19142 chromosomes (freq: 0.2915), South Asian in 8603 of 30266 chromosomes (freq: 0.2842), Ashkenazi Jewish in 552 of 9938 chromosomes (freq: 0.05554), Other in 291 of 6920 chromosomes (freq: 0.04205), African in 328 of 22856 chromosomes (freq: 0.01435), European (non-Finnish) in 1619 of 119630 chromosomes (freq: 0.01353), Latino in 453 of 34580 chromosomes (freq: 0.0131), and European (Finnish) in 38 of 22246 chromosomes (freq: 0.001708). The variant occurs outside of the splicing consensus sequence and 3 of 4 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. The p.Glu148 residue is conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The structural effect of the E148Q variant was predicted to be low by a quantum chemistry-based model (Naimushin_2011_PMID:21598804). 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. (less)
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Uncertain significance
(-)
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no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001974762.1 First in ClinVar: Oct 08, 2021 Last updated: Oct 08, 2021 |
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Benign
(May 01, 2020)
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no assertion criteria provided
Method: clinical testing
|
Familial Mediterranean fever
Affected status: unknown
Allele origin:
germline
|
Natera, Inc.
Accession: SCV001462426.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
|
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Uncertain significance
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001928855.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
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Uncertain significance
(-)
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no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001952187.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Uncertain significance
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001963475.1 First in ClinVar: Oct 08, 2021 Last updated: Oct 08, 2021 |
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Uncertain significance
(Oct 09, 2023)
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no assertion criteria provided
Method: clinical testing
|
Familial Mediterranean fever, autosomal dominant
Affected status: yes
Allele origin:
germline
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
Accession: SCV004041695.1
First in ClinVar: Oct 14, 2023 Last updated: Oct 14, 2023 |
|
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not provided
(-)
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no classification provided
Method: phenotyping only
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Familial Mediterranean fever
Affected status: unknown
Allele origin:
unknown
|
GenomeConnect, ClinGen
Accession: SCV000606900.1
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
Comment:
GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical … (more)
GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. (less)
Clinical Features:
Premature birth (present) , Short stature (present) , Ptosis (present) , Myopia (present) , Abnormality of eye movement (present) , Vertigo (present) , Tinnitus (present) … (more)
Premature birth (present) , Short stature (present) , Ptosis (present) , Myopia (present) , Abnormality of eye movement (present) , Vertigo (present) , Tinnitus (present) , Generalized hypotonia (present) , EEG abnormality (present) , Cognitive impairment (present) , Hyperextensible skin (present) , Hyperhidrosis (present) , Joint hypermobility (present) , Abnormality of the musculature of the limbs (present) , Abnormality of muscle morphology (present) , Abnormality of muscle physiology (present) , Abnormality of facial musculature (present) , Arrhythmia (present) , Abnormal pattern of respiration (present) , Gastrointestinal dysmotility (present) , Abnormality of the stomach (present) , Abnormality of esophagus morphology (present) , Feeding difficulties (present) , Abnormality of the bladder (present) , Abnormality of leukocytes (present) , Abnormality of erythrocytes (present) , Bruising susceptibility (present) , Abnormal thrombosis (present) (less)
Age: 20-29 years
Sex: female
Method: Sanger Sequencing
Testing laboratory: GeneDx
Date variant was reported to submitter: 2015-09-10
Testing laboratory interpretation: Uncertain significance
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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
|
GeneReviews
Accession: SCV000484959.2
First in ClinVar: Dec 06, 2016 Last updated: Oct 01, 2022 |
Ethnicity/Population group: Ashkenazi and Iraqi Jews, Armenians, Turks
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Pathogenic
(Sep 27, 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
|
Eurofins Ntd Llc (ga)
Accession: SCV000227072.5
First in ClinVar: Jun 28, 2015 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 127
Sex: mixed
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Pathogenic
(Jun 26, 2014)
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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: yes
Allele origin:
germline
|
Clinical Genetics and Genomics, Karolinska University Hospital
Accession: SCV001450089.1
First in ClinVar: Dec 12, 2020 Last updated: Dec 12, 2020 |
Number of individuals with the variant: 25
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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 |
---|---|---|---|---|
Autoinflammatory syndromes with coexisting variants in Mediterranean FeVer and other genes: Utility of multiple gene screening and the possible impact of gene dosage. | Karamanakos A | Seminars in arthritis and rheumatism | 2022 | PMID: 35780723 |
Clinical and Laboratory Parameters of Autoinflammatory Disorders in Single Tertiary Care Center. | Sherkat R | Iranian journal of allergy, asthma, and immunology | 2022 | PMID: 35490273 |
Role of E148Q in familial Mediterranean fever with an exon 10 mutation in MEFV. | Miyashita K | Pediatrics international : official journal of the Japan Pediatric Society | 2022 | PMID: 33715276 |
Clinical significance of E148Q heterozygous variant in paediatric familial Mediterranean fever. | Tirosh I | Rheumatology (Oxford, England) | 2021 | PMID: 33560333 |
MEFV E148Q variant is more associated with familial Mediterranean fever when combined with other non-exon 10 MEFV variants in Japanese patients with recurrent fever. | Fujimoto K | Modern rheumatology | 2021 | PMID: 33497256 |
Familial Mediterranean fever: Penetrance of the p.[Met694Val];[Glu148Gln] and p.[Met694Val];[=] genotypes. | Eyal O | Human mutation | 2020 | PMID: 32741030 |
Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever. | Van Gorp H | Annals of the rheumatic diseases | 2020 | PMID: 32312770 |
A case of neutrophilic dermatosis with MEFV gene variant and abnormal activation of peripheral blood monocytes: a case report. | Otsuka M | Immunological medicine | 2019 | PMID: 31204589 |
Molecular Patterns of MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever: A Retrospective Cohort Study. | Mansour AR | International journal of inflammation | 2019 | PMID: 30915208 |
New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID). | Van Gijn ME | Journal of medical genetics | 2018 | PMID: 29599418 |
Comparison of early versus late onset familial Mediterranean fever. | Yasar Bilge NS | International journal of rheumatic diseases | 2018 | PMID: 29314707 |
Genotype-phenotype correlation in FMF patients: A "non classic" recessive autosomal or "atypical" dominant autosomal inheritance? | Procopio V | Gene | 2018 | PMID: 29080837 |
TNFRSF1A and MEFV mutations in childhood onset multiple sclerosis. | Blaschek A | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2018 | PMID: 28927886 |
Familial Mediterranean fever patients homozygous for E148Q variant may have milder disease. | Topaloglu R | International journal of rheumatic diseases | 2018 | PMID: 27457448 |
Frequency of familial Mediterranean fever (MEFV) gene mutations in patients with biopsy-proven primary glomerulonephritis. | Huzmeli C | Clinical rheumatology | 2017 | PMID: 28573371 |
Familial Mediterranean fever with P369S/R408Q exon3 variant in pyrin presenting as symptoms of PFAPA. | Yamagami K | Modern rheumatology | 2017 | PMID: 28001092 |
Evidence of digenic inheritance in autoinflammation-associated genes. | Neocleous V | Journal of genetics | 2016 | PMID: 27994174 |
Distribution of MEFV gene mutations and R202Q polymorphism in the Serbian population and their influence on oxidative stress and clinical manifestations of inflammation. | Milenković J | Pediatric rheumatology online journal | 2016 | PMID: 27364639 |
MEFV gene mutation in two cases of pyoderma gangrenosum with aseptic arthritis. | Honda Y | Journal of the European Academy of Dermatology and Venereology : JEADV | 2016 | PMID: 26537665 |
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 |
The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (Kahramanmaraş) of Turkey. | Kilinc M | Rheumatology international | 2016 | PMID: 26215181 |
The first case of adult-onset PFAPA syndrome in Japan. | Kutsuna S | Modern rheumatology | 2016 | PMID: 24289199 |
Familial Mediterranean Fever. | Adam MP | - | 2016 | PMID: 20301405 |
Familial Mediterranean Fever With Complete Symptomatic Remission During Pregnancy. | Kim KT | Intestinal research | 2015 | PMID: 26131005 |
Familial Mediterranean fever variant with repeated atypical skin eruptions. | Takahashi T | The Journal of dermatology | 2015 | PMID: 25959027 |
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 associated with MEFV mutations in a large cohort of Cypriot patients. | Neocleous V | Annals of human genetics | 2015 | PMID: 25393764 |
Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations. | Kishida D | Arthritis research & therapy | 2014 | PMID: 25261100 |
A case of recurrent abdominal pain with fever and urticarial eruption. | Lee CG | The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chi | 2014 | PMID: 25073670 |
MEFV gene polymorphisms and TNFRSF1A mutation in patients with inflammatory myopathy with abundant macrophages. | Fujikawa K | Clinical and experimental immunology | 2014 | PMID: 24965843 |
Familial Mediterranean fever: genotype-phenotype correlations in Japanese patients. | Migita K | Medicine | 2014 | PMID: 24797171 |
MEFV gene mutations and cardiac phenotype in children with familial Mediterranean fever: a cohort study. | Salah S | Pediatric rheumatology online journal | 2014 | PMID: 24433404 |
Defect of suppression of inflammasome-independent interleukin-8 secretion from SW982 synovial sarcoma cells by familial Mediterranean fever-derived pyrin mutations. | Sugiyama R | Molecular biology reports | 2014 | PMID: 24318677 |
Patient management and the association of less common familial Mediterranean fever symptoms with other disorders. | Moradian MM | Genetics in medicine : official journal of the American College of Medical Genetics | 2014 | PMID: 23907647 |
Personalized genomic disease risk of volunteers. | Gonzalez-Garay ML | Proceedings of the National Academy of Sciences of the United States of America | 2013 | PMID: 24082139 |
Common MEFV gene mutations in Turkish patients with Behcet's disease. | Tasliyurt T | Gene | 2013 | PMID: 23973724 |
The risk of familial Mediterranean fever in MEFV heterozygotes: a statistical approach. | Jéru I | PloS one | 2013 | PMID: 23844200 |
MEFV gene mutations in Turkish children with juvenile idiopathic arthritis. | Comak E | European journal of pediatrics | 2013 | PMID: 23588594 |
Extensive thrombosis in a patient with familial Mediterranean fever, despite hyperimmunoglobulin D state in serum. [corrected]. | Joo K | Journal of Korean medical science | 2013 | PMID: 23400211 |
Mesangial proliferative glomerulonephritis in familial Mediterranean fever patient with E148Q mutation: the first case report. | Eroglu E | International urology and nephrology | 2013 | PMID: 22261745 |
Familial Mediterranean FeVer gene (MEFV) mutations as a modifier of systemic lupus erythematosus. | Shinar Y | Lupus | 2012 | PMID: 22532615 |
'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient. | Camus D | Clinical genetics | 2012 | PMID: 21995303 |
The structural effect of the E148Q MEFV mutation on the pyrin protein: a study using a quantum chemistry model. | Naimushin A | The Israel Medical Association journal : IMAJ | 2011 | PMID: 21598804 |
Familial Mediterranean fever--a review. | Shohat M | Genetics in medicine : official journal of the American College of Medical Genetics | 2011 | PMID: 21358337 |
MEFV gene mutations in a patient with eosinophilic gastroenteritis. | Kocak G | Southern medical journal | 2010 | PMID: 20890251 |
Association of familial Mediterranean fever-related MEFV variations with ankylosing spondylitis. | Cosan F | Arthritis and rheumatism | 2010 | PMID: 20669279 |
MEFV E148Q polymorphism is associated with Henoch-Schönlein purpura in Chinese children. | He X | Pediatric nephrology (Berlin, Germany) | 2010 | PMID: 20602240 |
1Novel MEFV transcripts in Familial Mediterranean fever patients and controls. | Medlej-Hashim M | BMC medical genetics | 2010 | PMID: 20534143 |
Evaluation of common mutations in the Mediterranean fever gene in Multiple Sclerosis patients: is it a susceptibility gene? | Unal A | Journal of the neurological sciences | 2010 | PMID: 20483145 |
High frequency of MEFV gene mutations in patients with myeloid neoplasm. | Oktenli C | International journal of hematology | 2010 | PMID: 20437121 |
A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan. | Oshima K | Modern rheumatology | 2010 | PMID: 19967574 |
Common Mediterranean fever gene mutations in the Azeri Turkish population of Iran. | Bonyadi M | Genetic testing and molecular biomarkers | 2010 | PMID: 19929404 |
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 |
Analysis of familial Mediterranean fever gene mutations in 202 patients with familial Mediterranean fever. | Solak M | Genetic testing | 2008 | PMID: 18662100 |
MEFV mutation analysis of familial Mediterranean fever in Japan. | Tomiyama N | Clinical and experimental rheumatology | 2008 | PMID: 18328141 |
Familial Mediterranean fever in three Japanese patients, and a comparison of the frequency of MEFV gene mutations in Japanese and Mediterranean populations. | Sugiura T | Modern rheumatology | 2008 | PMID: 18097735 |
Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever. | Tchernitchko DO | Annals of the rheumatic diseases | 2006 | PMID: 16439437 |
A Japanese patient with familial Mediterranean fever associated with compound heterozygosity for pyrin variant E148Q/M694I. | Nakamura A | Internal medicine (Tokyo, Japan) | 2005 | PMID: 15805719 |
E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever. | Topaloglu R | Annals of the rheumatic diseases | 2005 | PMID: 15458961 |
Periodic fever due to a novel TNFRSF1A mutation in a heterozygous Chinese carrier of MEFV E148Q. | Stojanov S | Rheumatology (Oxford, England) | 2004 | PMID: 15024140 |
The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever. | Tchernitchko D | Human mutation | 2003 | PMID: 12955725 |
The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever. | Gershoni-Baruch R | European journal of human genetics : EJHG | 2002 | PMID: 11938447 |
Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method. | Medlej-Hashim M | Clinical genetics | 2002 | PMID: 11903360 |
Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148. | Booth DR | QJM : monthly journal of the Association of Physicians | 2001 | PMID: 11588211 |
Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population. | Yilmaz E | European journal of human genetics : EJHG | 2001 | PMID: 11464248 |
The spectrum of Familial Mediterranean Fever (FMF) mutations. | Touitou I | European journal of human genetics : EJHG | 2001 | PMID: 11464238 |
Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups. | Stoffman N | European journal of human genetics : EJHG | 2000 | PMID: 10854115 |
The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant? | Ben-Chetrit E | Human mutation | 2000 | PMID: 10737995 |
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 |
Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). | Bernot A | Human molecular genetics | 1998 | PMID: 9668175 |
Dominant inheritance in two families with familial Mediterranean fever (FMF). | Yuval Y | American journal of medical genetics | 1995 | PMID: 7677151 |
Effect of steroid hormones on the in vivo incorporation of glycine-2-14C into solid Ehrlich tumor, kidney, and liver. | Kodama M | Cancer research | 1970 | PMID: 5458961 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MEFV | - | - | - | - |
http://www.ncbi.nlm.nih.gov/books/NBK1227/ | - | - | - | - |
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Text-mined citations for rs3743930 ...
HelpRecord last updated Jun 02, 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.