NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr)

NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr)

Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
  • Chr16:3243880 (on Assembly GRCh38)
  • Chr16:3293880 (on Assembly GRCh37)
Protein change:
I591T
HGVS:
  • NG_007871.1:g.17748T>C
  • NM_001198536.1:c.1314T>C
  • NM_000243.2:c.1772T>C
  • NC_000016.10:g.3243880A>G
  • NC_000016.9:g.3293880A>G
  • NP_001185465.1:p.Asp438=
  • NP_000234.1:p.Ile591Thr
  • LRG_190p1:p.Ile591Thr
  • LRG_190t1:c.1772T>C
  • LRG_190:g.17748T>C
Links:
dbSNP: 11466045
NCBI 1000 Genomes Browser:
rs11466045
Molecular consequence:
  • NM_000243.2:c.1772T>C: missense variant SO:0001583
  • NM_001198536.1:c.1314T>C: synonymous variant SO:0001588
Allele frequency:
  • GO-ESP 0.01077 (G)
  • GMAF 0.00730 (G)

Clinical significance

NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr)

Clinical significance:
Uncertain significance
Review status:
(1/4)1 star out of maximum of 4 stars
classified by single submitter
Number of submission(s):
1
Condition(s)
See supporting ClinVar records

Recent Activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter
(Last submitted)
Submission accession
Uncertain significance
(Aug 18, 2011)
classified by single submitter
(clinical testing, literature only)
clinical testing, literature onlygermlinePubMed (6)
LabCorp
(Aug 18, 2011)
SCV000052838

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not provided13not providedgermlinenot providednot provided

LabCorp

Observations

FamiliesIndividualsSegregationAllele originObserved phenotypesEthnicityGeographic originCollection method
not provided1not providedgermlinenot providednot providednot providedclinical testing

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not provided1not providedgermline
not provided1not providedgermline
not provided1not providedgermline
not provided1not providedgermline
not provided3not providedgermline
not provided5not providedgermline

Description

First report of the variant; found in French FMF pt(s); frequency not specified but considered rare by the authors; zygosity not specified so counted 1 allele transmission ; From text: "Mutations other than the five described above are each found in 41% FMF chromosomes, some of them being private (discovered in only one patient). Some rare MEFV mutations tend to be over represented in peculiar populations, but have been occasionally detected in other countries (Table 1)."
Variant detected in one 25 yr old Spanish proband with FMF symptoms, compound het with M694I; His brother 34 yrs old and sister 35 yrs old also had the same genotype I591T/M694I but are asymptomatic (discordant); Controls not tested.
Variant was detected in 65 yr old French woman (initially presented with symptoms at age 56) fulfilling the diagnostic criteria for probable FMF where she had frequent attacks which responded to colchicine; zygosity not specified in this patient and occurrence was not counted since her FMF was considered "probable"; authors also detected the variant in one pt with classical FMF among a large referral practice who also carries mutation M694V (associated with FMF) in trans; Controls not tested.
Variant detected in one French pt in het state diagnosed with FMF; parents of pt are both French with no Mediterranean origin; Controls not tested.
The variant was detected in 3 patients; 2 Pts who are heterozygous for the variant presented with a clear FMF phenotype; the third Pt is a compound het for variant (inherited from healthy Danish father) and L110P-E148Q (inherited from Korean mother); Controls not tested. From text: "Two of these patients were solely heterozygous (for I591T and P369S-P408Q, respectively) but presented with a clear FMF phenotype, while the other two patients were compound heterozygous (P369S/M694V and I591T/L110PE148Q)."
The publication focuses on palindromic rheumatism, but used FMF Spanish patients as a control group; The variant was detected in 7 Chromosomes out of 84 unrelated FMF pts; 2 of the occurrences may have previously been published and were not counted due to authorship and geographical overlap with Aldea_2002; Variant was also detected in healthy controls (see pbGP) at a much lower frequency.

Last Updated: Aug 5, 2014

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