chr16:3254626:C>G Detail (hg38) (MEFV, LOC126862264)

Information

Genome

Assembly Position
hg19 chr16:3,304,626-3,304,626 View the variant detail on this assembly version.
hg38 chr16:3,254,626-3,254,626

HGVS

Type Transcript Protein
RefSeq NM_000243.2:c.442G>C NP_000234.1:p.Glu148Gln
NM_001198536.1:c.277+1685G>C
Ensemble ENST00000219596.6:c.442G>C ENST00000219596.6:p.Glu148Gln
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic Uncertain significance
Variant entry 23
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.219
ToMMo:0.223
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.315

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 608107 OMIM
HGNC 6998 HGNC
Ensembl ENSG00000103313 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv54446988 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000073
(TMGS000145) 		Kenjiro Kosaki
 Keio University
IRUD
Uncertain significance other germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000073
(TMGS000155) 		Kenjiro Kosaki
 Keio University
IRUD
Likely pathogenic other germline MGS000073
(TMGS000167) 		Kenjiro Kosaki
 Keio University
IRUD
Pathogenic other germline MGS000073
(TMGS000167) 		Kenjiro Kosaki
 Keio University
IRUD
Likely pathogenic other germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
Likely pathogenic other germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
Uncertain significance pharyngitis|cervical adenitis germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
Uncertain significance other germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
Uncertain significance other germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
Likely pathogenic other germline MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
Pathogenic other unknown MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
Pathogenic other unknown MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
Pathogenic Morvan's syndrome germline MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
Pathogenic myasthenia gravis germline MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-03-25 criteria provided, conflicting interpretations familial Mediterranean fever germline unknown Detail
Pathogenic 2000-04-01 no assertion criteria provided Familial Mediterranean fever, autosomal dominant germline Detail
Uncertain significance 2023-12-07 criteria provided, conflicting interpretations not specified germline Detail
Conflicting interpretations of pathogenicity 2023-11-21 criteria provided, conflicting interpretations not provided germline unknown Detail
Uncertain significance 2022-06-09 criteria provided, multiple submitters, no conflicts Familial Mediterranean fever, autosomal dominant germline unknown Detail
Uncertain significance 2020-10-04 criteria provided, multiple submitters, no conflicts familial Mediterranean fever,Familial Mediterranean fever, autosomal dominant germline Detail
Uncertain significance 2020-10-04 criteria provided, multiple submitters, no conflicts familial Mediterranean fever,Familial Mediterranean fever, autosomal dominant germline Detail
Uncertain significance 2022-03-30 criteria provided, single submitter germline Detail
Uncertain significance 2022-05-03 criteria provided, single submitter Autoinflammatory syndrome germline Detail
Uncertain significance 2022-05-10 criteria provided, single submitter not specified germline Detail
Benign 2016-07-12 criteria provided, single submitter Inborn genetic diseases germline Detail
Benign 2022-10-13 criteria provided, single submitter Familial Mediterranean fever, autosomal dominant,familial Mediterranean fever,Acute febrile neutrophilic dermatosis germline Detail
Benign 2022-10-13 criteria provided, single submitter Familial Mediterranean fever, autosomal dominant,familial Mediterranean fever,Acute febrile neutrophilic dermatosis germline Detail
Benign 2022-10-13 criteria provided, single submitter Familial Mediterranean fever, autosomal dominant,familial Mediterranean fever,Acute febrile neutrophilic dermatosis germline Detail
Likely benign 2022-04-06 criteria provided, single submitter MEFV-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.753 familial Mediterranean fever A case of familial Mediterranean fever associated with compound heterozygosity f... BeFree 19967574 Detail
0.753 familial Mediterranean fever Common MEFV mutation patterns were E148Q/M694I (25.0%), M694I alone (17.5%), and... BeFree 19531756 Detail
0.753 familial Mediterranean fever An initial diagnosis of FMF was suspected based on the genetic analysis, showing... BeFree 24835548 Detail
0.753 familial Mediterranean fever MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagn... UNIPROT 10364520 Detail
0.753 familial Mediterranean fever We screened 207 BD patients who had no symptoms and family history for FMF and 2... BeFree 23973724 Detail
0.753 familial Mediterranean fever She was later found to carry the complex allele E148Q/R202Q/P369S/R408Q of MEFV,... BeFree 23861027 Detail
0.753 familial Mediterranean fever The mutational analysis of the patient revealed a compound heterozygous E148Q/R2... BeFree 18824843 Detail
0.753 familial Mediterranean fever NA CLINVAR Detail
0.753 familial Mediterranean fever Genomic analysis showed the patient to be heterozygous for the E148Q/M694I mutat... BeFree 22766764 Detail
<0.001 relapsing fever Here, we report a Japanese female FMF patient with heterozygosity for the compou... BeFree 15805719 Detail
0.753 familial Mediterranean fever A Japanese patient with familial Mediterranean fever associated with compound he... BeFree 15805719 Detail
0.753 familial Mediterranean fever We describe 3 unrelated Japanese patients with familial Mediterranean fever (FMF... BeFree 15168590 Detail
0.064 amyloidosis We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I,... BeFree 11029479 Detail
0.753 familial Mediterranean fever Eight MEFV gene variants (M694I, M694V, M680I (G/C-A), V726A, R761H, E148Q and P... BeFree 22351163 Detail
0.360 Familial Mediterranean fever, autosomal dominant NA CLINVAR Detail
0.010 Henoch-Schoenlein purpura MEFV E148Q polymorphism is associated with Henoch-Schönlein purpura in Chinese c... BeFree 20602240 Detail
0.753 familial Mediterranean fever Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Medite... BeFree 16439437 Detail
0.753 familial Mediterranean fever He was later found to carry E148Q polymorphism of MEFV, the gene responsible for... BeFree 18625654 Detail
0.753 familial Mediterranean fever The role of the E148Q pyrin mutation in the FMF phenotype remains inconclusive, ... BeFree 21598804 Detail
0.004 vasculitis We investigated a possible association between Kawasaki disease (KD), a systemic... BeFree 19026701 Detail
0.753 familial Mediterranean fever The E148Q MEFV allele is not implicated in the development of familial Mediterra... BeFree 12955725 Detail
0.001 Muckle-Wells syndrome The E148Q variant of MEFV was present in two of the three patients with TNF rece... BeFree 15071491 Detail
0.753 familial Mediterranean fever Analysis for FMF mutations in the control group revealed that 5 (5%) individuals... BeFree 16273767 Detail
0.753 familial Mediterranean fever Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk... BeFree 22337722 Detail
0.064 amyloidosis The E148Q variant of MEFV was present in two of the three patients with TNF rece... BeFree 15071491 Detail
0.006 multiple sclerosis Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk... BeFree 22337722 Detail
0.360 Familial Mediterranean fever, autosomal dominant MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagn... UNIPROT 10364520 Detail
0.002 TNF receptor-associated periodic fever syndrome (TRAPS) The E148Q variant of MEFV was present in two of the three patients with TNF rece... BeFree 15071491 Detail
0.753 familial Mediterranean fever This is the first reported case of PLE with a distended right jugular vein due t... BeFree 21210266 Detail
0.009 brucellosis Genetic analysis was done and heterozygous mutation E148Q was detected as a dise... BeFree 21210266 Detail
0.753 familial Mediterranean fever We investigated a possible association between Kawasaki disease (KD), a systemic... BeFree 19026701 Detail
0.753 familial Mediterranean fever Familial Mediterranean fever and E148Q pyrin gene mutation in Greece. BeFree 15717684 Detail
0.753 familial Mediterranean fever E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients wi... BeFree 15458961 Detail
0.753 familial Mediterranean fever We identified 1 homozygous (E148Q/E148Q), 1 compound heterozygous (M694V/E148Q) ... BeFree 20437121 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) AND Familial Mediterranean fever ClinVar Detail
NM_000243.2(MEFV):c.[442G>C;2082G>A] AND Familial Mediterranean fever, autosomal dominant ClinVar Detail
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) AND not specified ClinVar Detail
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) AND not provided ClinVar Detail
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) AND Familial Mediterranean fever, autosomal dominant ClinVar Detail
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) AND See cases ClinVar Detail
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) AND Autoinflammatory syndrome ClinVar Detail
NM_000243.3(MEFV):c.[329T>C;442G>C] AND not specified ClinVar Detail
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) AND Inborn genetic diseases ClinVar Detail
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) AND MEFV-related disorder ClinVar Detail
A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant... DisGeNET Detail
Common MEFV mutation patterns were E148Q/M694I (25.0%), M694I alone (17.5%), and L110P/E148Q/M694I (... DisGeNET Detail
An initial diagnosis of FMF was suspected based on the genetic analysis, showing the compound hetero... DisGeNET Detail
MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfa... DisGeNET Detail
We screened 207 BD patients who had no symptoms and family history for FMF and 200 healthy subjects ... DisGeNET Detail
She was later found to carry the complex allele E148Q/R202Q/P369S/R408Q of MEFV, the gene responsibl... DisGeNET Detail
The mutational analysis of the patient revealed a compound heterozygous E148Q/R202Q mutation in exon... DisGeNET Detail
NA DisGeNET Detail
Genomic analysis showed the patient to be heterozygous for the E148Q/M694I mutation in the MEFV gene... DisGeNET Detail
Here, we report a Japanese female FMF patient with heterozygosity for the compound pyrin E148Q/M694I... DisGeNET Detail
A Japanese patient with familial Mediterranean fever associated with compound heterozygosity for pyr... DisGeNET Detail
We describe 3 unrelated Japanese patients with familial Mediterranean fever (FMF) due to a compound ... DisGeNET Detail
We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q... DisGeNET Detail
Eight MEFV gene variants (M694I, M694V, M680I (G/C-A), V726A, R761H, E148Q and P369S) were analyzed ... DisGeNET Detail
NA DisGeNET Detail
MEFV E148Q polymorphism is associated with Henoch-Schönlein purpura in Chinese children. DisGeNET Detail
Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever. DisGeNET Detail
He was later found to carry E148Q polymorphism of MEFV, the gene responsible for familial Mediterran... DisGeNET Detail
The role of the E148Q pyrin mutation in the FMF phenotype remains inconclusive, and some authors eve... DisGeNET Detail
We investigated a possible association between Kawasaki disease (KD), a systemic vasculitis of unkno... DisGeNET Detail
The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever. DisGeNET Detail
The E148Q variant of MEFV was present in two of the three patients with TNF receptor-associated peri... DisGeNET Detail
Analysis for FMF mutations in the control group revealed that 5 (5%) individuals bore MEFV gene muta... DisGeNET Detail
Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk factor for multiple... DisGeNET Detail
The E148Q variant of MEFV was present in two of the three patients with TNF receptor-associated peri... DisGeNET Detail
Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk factor for multiple... DisGeNET Detail
MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfa... DisGeNET Detail
The E148Q variant of MEFV was present in two of the three patients with TNF receptor-associated peri... DisGeNET Detail
This is the first reported case of PLE with a distended right jugular vein due to CP secondary to fa... DisGeNET Detail
Genetic analysis was done and heterozygous mutation E148Q was detected as a disease-causing Mediterr... DisGeNET Detail
We investigated a possible association between Kawasaki disease (KD), a systemic vasculitis of unkno... DisGeNET Detail
Familial Mediterranean fever and E148Q pyrin gene mutation in Greece. DisGeNET Detail
E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterr... DisGeNET Detail
We identified 1 homozygous (E148Q/E148Q), 1 compound heterozygous (M694V/E148Q) and 5 heterozygous M... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3743930 dbSNP
Genome
hg38
Position
chr16:3,254,626-3,254,626
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1191
Mean of sample read depth (HGVD)
57.24
Standard deviation of sample read depth (HGVD)
28.51
Number of reference allele (HGVD)
1861
Number of alternative allele (HGVD)
521
Allele Frequency (HGVD)
0.21872376154492024
Gene Symbol (HGVD)
MEFV
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs3743930
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2227
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3732
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
7222
East Asian Allele Counts (ExAC)
2275
East Asian Heterozygous Counts (ExAC)
1645
East Asian Homozygous Counts (ExAC)
315
East Asian Allele Frequency (ExAC)
0.3150096926059263
Chromosome Counts in All Race (ExAC)
92068
Allele Counts in All Race (ExAC)
8287
Heterozygous Counts in All Race (ExAC)
6211
Homozygous Counts in All Race (ExAC)
1038
Allele Frequency in All Race (ExAC)
0.09000955815266977
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