chr16:3243405:C>T Detail (hg38) (MEFV, LOC126862264)

Information

Genome

Assembly Position
hg19 chr16:3,293,405-3,293,405 View the variant detail on this assembly version.
hg38 chr16:3,243,405-3,243,405

HGVS

Type Transcript Protein
RefSeq NM_000243.2:c.2082G>A NP_000234.1:p.Met694Ile
NM_001198536.1:c.*286G>A
Ensemble ENST00000219596.6:c.2082G>A ENST00000219596.6:p.Met694Ile
Summary

MGeND

Clinical significance Pathogenic
Variant entry 15
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:0.002
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
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 tgv54445973 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000073
(TMGS000145) 		Kenjiro Kosaki
 Keio University
IRUD
Pathogenic other germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000073
(TMGS000155) 		Kenjiro Kosaki
 Keio University
IRUD
Pathogenic other germline MGS000073
(TMGS000167) 		Kenjiro Kosaki
 Keio University
IRUD
Pathogenic other germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000001
(TMGS000174) 		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 other germline MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-01-25 criteria provided, multiple submitters, no conflicts familial Mediterranean fever germline unknown Detail
Pathogenic 2000-04-01 no assertion criteria provided Familial Mediterranean fever, autosomal dominant germline Detail
Pathogenic 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-10-25 criteria provided, multiple submitters, no conflicts Familial Mediterranean fever, autosomal dominant germline unknown Detail
Pathogenic 2020-10-04 criteria provided, multiple submitters, no conflicts familial Mediterranean fever,Familial Mediterranean fever, autosomal dominant germline unknown Detail
Pathogenic 2020-10-04 criteria provided, multiple submitters, no conflicts familial Mediterranean fever,Familial Mediterranean fever, autosomal dominant germline unknown Detail
Pathogenic 2022-03-25 criteria provided, single submitter Autoinflammatory syndrome germline Detail
Pathogenic 2023-01-20 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 Common MEFV mutation patterns were E148Q/M694I (25.0%), M694I alone (17.5%), and... BeFree 19531756 Detail
0.753 familial Mediterranean fever NA CLINVAR Detail
0.753 familial Mediterranean fever Pyrin/marenostrin mutations in familial Mediterranean fever. UNIPROT 10024914 Detail
0.753 familial Mediterranean fever Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations... BeFree 20937419 Detail
0.753 familial Mediterranean fever Amyloid A amyloidosis in a Japanese patient with familial Mediterranean fever as... BeFree 24593212 Detail
0.753 familial Mediterranean fever Genomic analysis showed the patient to be heterozygous for the E148Q/M694I mutat... BeFree 22766764 Detail
<0.001 Coronary heart disease To evaluate whether inflammatory alleles of pyrin, the gene responsible for fami... BeFree 16387839 Detail
0.753 familial Mediterranean fever To evaluate whether inflammatory alleles of pyrin, the gene responsible for fami... BeFree 16387839 Detail
0.360 Familial Mediterranean fever, autosomal dominant Pyrin/marenostrin mutations in familial Mediterranean fever. UNIPROT 10024914 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
0.064 amyloidosis Amyloid A amyloidosis in a Japanese patient with familial Mediterranean fever as... BeFree 24593212 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
Annotation

Annotations

DescrptionSourceLinks
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) 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.2082G>A (p.Met694Ile) AND not provided ClinVar Detail
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) AND Familial Mediterranean fever, autosomal dominant ClinVar Detail
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) AND Autoinflammatory syndrome ClinVar Detail
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) AND MEFV-related disorder ClinVar Detail
Common MEFV mutation patterns were E148Q/M694I (25.0%), M694I alone (17.5%), and L110P/E148Q/M694I (... DisGeNET Detail
NA DisGeNET Detail
Pyrin/marenostrin mutations in familial Mediterranean fever. DisGeNET Detail
Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a ... DisGeNET Detail
Amyloid A amyloidosis in a Japanese patient with familial Mediterranean fever associated with homozy... DisGeNET Detail
Genomic analysis showed the patient to be heterozygous for the E148Q/M694I mutation in the MEFV gene... DisGeNET Detail
To evaluate whether inflammatory alleles of pyrin, the gene responsible for familial Mediterranean f... DisGeNET Detail
To evaluate whether inflammatory alleles of pyrin, the gene responsible for familial Mediterranean f... DisGeNET Detail
Pyrin/marenostrin mutations in familial Mediterranean fever. 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
Amyloid A amyloidosis in a Japanese patient with familial Mediterranean fever associated with homozy... 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

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
rs28940578 dbSNP
Genome
hg38
Position
chr16:3,243,405-3,243,405
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
163.54
Standard deviation of sample read depth (HGVD)
76.58
Number of reference allele (HGVD)
2418
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
8.264462809917355E-4
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))
rs28940578
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0016
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
27
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121410
Allele Counts in All Race (ExAC)
18
Heterozygous Counts in All Race (ExAC)
18
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.4825796886582654E-4
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