chr16:3243310:A>G Detail (hg38) (MEFV)

Information

Genome

Assembly Position
hg19 chr16:3,293,310-3,293,310 View the variant detail on this assembly version.
hg38 chr16:3,243,310-3,243,310

HGVS

Type Transcript Protein
RefSeq NM_000243.2:c.2177T>C NP_000234.1:p.Val726Ala
NM_001198536.1:c.*381T>C
Ensemble ENST00000219596.6:c.2177T>C ENST00000219596.6:p.Val726Ala
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
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 tgv393701993 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic other germline MGS000001
(TMGS000174) 		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 2024-04-04 criteria provided, multiple submitters, no conflicts familial Mediterranean fever germline unknown Detail
Pathogenic Likely pathogenic 2024-03-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2021-05-03 criteria provided, multiple submitters, no conflicts Familial Mediterranean fever, autosomal dominant,familial Mediterranean fever germline unknown Detail
Pathogenic 2021-05-03 criteria provided, multiple submitters, no conflicts Familial Mediterranean fever, autosomal dominant,familial Mediterranean fever germline unknown Detail
Pathogenic 2023-09-22 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2023-10-31 criteria provided, multiple submitters, no conflicts Familial Mediterranean fever, autosomal dominant germline inherited unknown Detail
Pathogenic 2021-06-30 criteria provided, multiple submitters, no conflicts Familial Mediterranean fever, autosomal dominant,Acute febrile neutrophilic dermatosis,familial Mediterranean fever unknown germline Detail
Pathogenic 2021-06-30 criteria provided, multiple submitters, no conflicts Familial Mediterranean fever, autosomal dominant,Acute febrile neutrophilic dermatosis,familial Mediterranean fever germline unknown Detail
Pathogenic 2021-06-30 criteria provided, multiple submitters, no conflicts Familial Mediterranean fever, autosomal dominant,Acute febrile neutrophilic dermatosis,familial Mediterranean fever germline unknown Detail
Pathogenic 2022-04-19 criteria provided, single submitter Autoinflammatory syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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 NA CLINVAR Detail
0.753 familial Mediterranean fever Pyrin/marenostrin mutations in familial Mediterranean fever. UNIPROT 10024914 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
0.010 Henoch-Schoenlein purpura MEFV gene mutations (M694V, V726A, M680I, and A744S) in Iranian children with He... BeFree 22783597 Detail
0.753 familial Mediterranean fever The MEFV gene involved in familial Mediterranean fever was recently cloned and f... BeFree 10447272 Detail
0.753 familial Mediterranean fever The aim of this study is to evaluate the use of polymerase chain reaction (PCR) ... BeFree 15724392 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
Annotation

Annotations

DescrptionSourceLinks
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) AND Familial Mediterranean fever ClinVar Detail
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) AND not provided ClinVar Detail
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) AND Inborn genetic diseases ClinVar Detail
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) AND Familial Mediterranean fever, autosomal dominant ClinVar Detail
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) AND Autoinflammatory syndrome ClinVar Detail
We screened 207 BD patients who had no symptoms and family history for FMF and 200 healthy subjects ... DisGeNET Detail
NA DisGeNET Detail
Pyrin/marenostrin mutations in familial Mediterranean fever. 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
MEFV gene mutations (M694V, V726A, M680I, and A744S) in Iranian children with Henoch-Schönlein purpu... DisGeNET Detail
The MEFV gene involved in familial Mediterranean fever was recently cloned and four distinct sequenc... DisGeNET Detail
The aim of this study is to evaluate the use of polymerase chain reaction (PCR) for diagnosis of FMF... 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

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
rs28940579 dbSNP
Genome
hg38
Position
chr16:3,243,310-3,243,310
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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)
121408
Allele Counts in All Race (ExAC)
224
Heterozygous Counts in All Race (ExAC)
212
Homozygous Counts in All Race (ExAC)
6
Allele Frequency in All Race (ExAC)
0.0018450184501845018
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