NM_000243.2(MEFV):c.2040G>A (p.Met680Ile) AND Familial Mediterranean fever

Clinical significance:Pathogenic (Last evaluated: Apr 1, 1999)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000002659.2

Allele description

NM_000243.2(MEFV):c.2040G>A (p.Met680Ile)

Gene:
MEFV:Mediterranean fever [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000243.2(MEFV):c.2040G>A (p.Met680Ile)
Other names:
MEFV, MET680ILE, 2040G-A
HGVS:
  • NC_000016.10:g.3243447C>T
  • NG_007871.1:g.18181G>A
  • NM_000243.2:c.2040G>A
  • NM_001198536.1:c.*244G>A
  • NP_000234.1:p.Met680Ile
  • LRG_190t1:c.2040G>A
  • LRG_190:g.18181G>A
  • LRG_190p1:p.Met680Ile
  • NC_000016.9:g.3293447C>T
Protein change:
M680I; MET680ILE
Links:
OMIM: 608107.0013; dbSNP: rs28940580
NCBI 1000 Genomes Browser:
rs28940580
Molecular consequence:
  • NM_001198536.1:c.*244G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000243.2:c.2040G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial Mediterranean fever (FMF)
Synonyms:
FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL RECESSIVE; POLYSEROSITIS, FAMILIAL PAROXYSMAL; POLYSEROSITIS, RECURRENT; See all synonyms [MedGen]
Identifiers:
MedGen: C0031069; Orphanet: 342; OMIM: 249100
Age of onset:
Adolescent
Prevalence:
>1 / 1000 342

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000022817OMIMno assertion criteria providedPathogenic
(Apr 1, 1999)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

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, Torosyan Y, Samuels J, Centola M, Pras E, Chae JJ, Oddoux C, Wood G, Azzaro MP, Palumbo G, Giustolisi R, Pras M, Ostrer H, Kastner DL.

Am J Hum Genet. 1999 Apr;64(4):949-62.

PubMed [citation]
PMID:
10090880
PMCID:
PMC1377819

Details of each submission

From OMIM, SCV000022817.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Aksentijevich et al. (1999) described a 2040G-A transition in the MEFV gene in FMF (249100) causing an M680I amino acid substitution. A G-C transversion of the same nucleotide (608107.0004) resulted in the same amino acid change.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 12, 2016