chr16:3243447:C>T Detail (hg38) (MEFV, LOC126862264)

Information

Genome

Assembly Position
hg19 chr16:3,293,447-3,293,447 View the variant detail on this assembly version.
hg38 chr16:3,243,447-3,243,447

HGVS

Type Transcript Protein
RefSeq NM_000243.2:c.2040G>A NP_000234.1:p.Met680Ile
NM_001198536.1:c.*244G>A
Ensemble ENST00000219596.6:c.2040G>A ENST00000219596.6:p.Met680Ile
Summary

MGeND

Clinical significance
Variant entry
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
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-06 criteria provided, multiple submitters, no conflicts familial Mediterranean fever germline unknown Detail
Pathogenic 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
no classifications from unflagged records no classifications from unflagged records familial Mediterranean fever,Familial Mediterranean fever, autosomal dominant germline Detail
no classifications from unflagged records no classifications from unflagged records familial Mediterranean fever,Familial Mediterranean fever, autosomal dominant germline Detail
Pathogenic 2023-10-14 criteria provided, single submitter Familial Mediterranean fever, autosomal dominant germline unknown Detail
Pathogenic 2022-03-25 criteria provided, single submitter Autoinflammatory syndrome 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 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
0.010 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
0.360 Familial Mediterranean fever, autosomal dominant TRIM-mediated precision autophagy targets cytoplasmic regulators of innate immun... UNIPROT 26347139 Detail
0.753 familial Mediterranean fever The autophagic function of TRIM20 is affected by mutations associated with famil... UNIPROT 26347139 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.2040G>A (p.Met680Ile) AND Familial Mediterranean fever ClinVar Detail
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) AND not provided ClinVar Detail
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) AND Familial Mediterranean fever, autosomal dominant ClinVar Detail
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) AND Autoinflammatory syndrome ClinVar Detail
A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant... DisGeNET Detail
We screened 207 BD patients who had no symptoms and family history for FMF and 200 healthy subjects ... DisGeNET Detail
NA 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
TRIM-mediated precision autophagy targets cytoplasmic regulators of innate immunity. DisGeNET Detail
The autophagic function of TRIM20 is affected by mutations associated with familial Mediterranean fe... 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
rs28940580 dbSNP
Genome
hg38
Position
chr16:3,243,447-3,243,447
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6473107651758506E-5
Genome browser