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NM_000243.2(MEFV):c.2038A>C (p.Met680Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
May 31, 2019
Accession:
VCV000097480.4
Variation ID:
97480
Description:
single nucleotide variant
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NM_000243.2(MEFV):c.2038A>C (p.Met680Leu)

Allele ID
103372
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 3243449 (GRCh38) GRCh38 UCSC
16: 3293449 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.9:g.3293449T>G
NC_000016.10:g.3243449T>G
NM_000243.2:c.2038A>C NP_000234.1:p.Met680Leu missense
... more HGVS
Protein change
M680L
Other names
-
Canonical SPDI
NC_000016.10:3243448:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA280489
UniProtKB: O15553#VAR_016830
dbSNP: rs104895089
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations May 31, 2019 RCV000083732.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MEFV No evidence available No evidence available GRCh38
GRCh37
674 722

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Familial Mediterranean fever
Allele origin: unknown
Mendelics
Accession: SCV001139832.1
Submitted: (Oct 22, 2019)
Evidence details
Uncertain significance
(May 31, 2019)
criteria provided, single submitter
Method: clinical testing
Familial Mediterranean fever
Allele origin: germline
Invitae
Accession: SCV001387929.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (13)
Comment:
This sequence change replaces methionine with leucine at codon 680 of the MEFV protein (p.Met680Leu). The methionine residue is weakly conserved and there is a … (more)
not provided
(-)
no assertion provided
Method: not provided
Familial Mediterranean fever
Allele origin: not provided
Unité médicale des maladies autoinflammatoires, CHRU Montpellier
Accession: SCV000115825.1
Submitted: (Jun 07, 2010)
Evidence details

Functional evidence

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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 this variant

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Title Author Journal Year Link
Genotype-phenotype correlation in FMF patients: A "non classic" recessive autosomal or "atypical" dominant autosomal inheritance? Procopio V Gene 2018 PMID: 29080837
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
Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children. Ozen S Annals of the rheumatic diseases 2014 PMID: 23463692
Common MEFV gene mutations in Turkish patients with Behcet's disease. Tasliyurt T Gene 2013 PMID: 23973724
MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever. Belmahi L Rheumatology international 2012 PMID: 21246368
Common MEFV mutations in Iranian Azeri Turkish patients with Behçet's disease. Esmaeili M Scandinavian journal of rheumatology 2011 PMID: 21623663
Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice. Chae JJ Immunity 2011 PMID: 21600797
MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever. Giaglis S Clinical genetics 2007 PMID: 17489852
Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever. Belmahi L Comptes rendus biologies 2006 PMID: 16439335
Familial Mediterranean fever: the segregation of four different mutations in 13 individuals from one inbred family: genotype-phenotype correlation and intrafamilial variability. Gershoni-Baruch R American journal of medical genetics 2002 PMID: 11977178
Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever. Dodé C American journal of medical genetics 2000 PMID: 10842288
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
Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. - Cell 1997 PMID: 9288758

Text-mined citations for rs104895089...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 08, 2021