GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MEFV L110Pinsufficiently evaluated not reviewed, f=0.009unknown var-GS18940-1100-36-ASM
MEFV G111Rinsufficiently evaluated not reviewed, f=0.009unknown

(3 web hits)

MEFV E148Qlikely pathogenic, f=0.012recessive

Some reports believe this cause Familial Mediterranean Fever in a recessive manner with reduced penetrance (i.e. not all get the disease). However, these reports lack strong statistical significance; other studies argue the variant is not associated with the disease.

(1280 web hits)

var-GS18558-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS18555-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18940-1100-36-ASM
MEFV E148Vinsufficiently evaluated pathogenicunknown

(55 web hits)

MEFV E167Dinsufficiently evaluated pathogenicunknown

(78 web hits)

MEFV G196Winsufficiently evaluated not reviewed, f=0.003unknown var-GS18502-1100-36-ASM
MEFV R202Qinsufficiently evaluated pathogenic, f=0.178recessive

This variant may increase susceptibility to Familial Mediterranean Fever.

(81 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS10851-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
hu728FFF build 36 substitution variants (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
var-GS06985-1100-36-ASM
MEFV T267Iinsufficiently evaluated pathogenic, f=0.000unknown

(71 web hits)

MEFV G304Rinsufficiently evaluated not reviewed, f=0.000unknown

(12 web hits)

var-GS18555-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
MEFV A311Vinsufficiently evaluated none, f=0.000unknown var-GS18517-1100-36-ASM
MEFV F334Linsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
MEFV R361Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
MEFV P369Suncertain pathogenic, f=0.005recessive

Weak evidence associating this with familial mediterranean fever, but there is a fairly high frequency of this allele. This variant might cause increased susceptibility to the disease but there is not enough evidence to be significant.

(266 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS18504-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
MEFV R408Quncertain pathogenic, f=0.005recessive

This variant is associated with Familial Mediterranean Fever, it has generally been reported in cis with other variants. Sugiura et al. conclude that this variant may be weakly involved with the disease.

(139 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS18504-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
MEFV D424Einsufficiently evaluated not reviewedunknown
MEFV G436Rinsufficiently evaluated not reviewedunknown
MEFV Q440Einsufficiently evaluated not reviewed, f=0.004unknown var-GS19735-1100-36-ASM
var-GS19703-1100-36-ASM
MEFV H478Yinsufficiently evaluated pathogenicunknown

(51 web hits)

MEFV F479Linsufficiently evaluated pathogenicunknown

(162 web hits)

MEFV I591Tinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01669-DNA_D02 from PGP sample 27316983
MEFV R653Hinsufficiently evaluated pathogenic, f=0.000unknown

(44 web hits)

MEFV M680Iinsufficiently evaluated not reviewed, f=0.000unknown

(426 web hits)

MEFV M694Iinsufficiently evaluated pathogenicunknown

(689 web hits)

MEFV M694Vinsufficiently evaluated pathogenic, f=0.000unknown

(1700 web hits)

MEFV K695Runcertain benign, f=0.002unknown

Reported to cause Familial Mediterranean Fever in a recessive manner, recorded in ClinVar by OMIM and another clinical group (http://www.ncbi.nlm.nih.gov/clinvar/RCV000002656/). This report comes from Bernot et al 1998 (PMID: 9668175) who screened 120 patient chromosomes and report seeing this in 3 Jewish families. However, the variant is relatively common with 0.8% frequency in European ancestry. This strongly contradicts the reported effect, and the observation of Bernot et al is not statistically different from this population data.

(234 web hits)

MEFV V726Ainsufficiently evaluated pathogenic, f=0.002unknown

(988 web hits)

MEFV A744Sinsufficiently evaluated pathogenic, f=0.001unknown

(210 web hits)

MEFV R761Hinsufficiently evaluated pathogenicunknown

(263 web hits)

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Total results: 28

Gene search

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