chr16:3243205:C>T Detail (hg38) (MEFV)

Information

Genome

Assembly Position
hg19 chr16:3,293,205-3,293,205 View the variant detail on this assembly version.
hg38 chr16:3,243,205-3,243,205

HGVS

Type Transcript Protein
RefSeq NM_000243.2:c.2282G>A NP_000234.1:p.Arg761His
NM_001198536.1:c.*486G>A
Ensemble ENST00000219596.6:c.2282G>A ENST00000219596.6:p.Arg761His
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:0.002

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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-01-28 criteria provided, multiple submitters, no conflicts familial Mediterranean fever germline inherited not provided unknown Detail
Pathogenic Likely pathogenic 2023-11-22 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2018-10-31 criteria provided, single submitter Familial Mediterranean fever, autosomal dominant,familial Mediterranean fever unknown Detail
Likely pathogenic 2018-10-31 criteria provided, single submitter Familial Mediterranean fever, autosomal dominant,familial Mediterranean fever unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Acute febrile neutrophilic dermatosis,Familial Mediterranean fever, autosomal dominant,familial Mediterranean fever unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Acute febrile neutrophilic dermatosis,Familial Mediterranean fever, autosomal dominant,familial Mediterranean fever unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Acute febrile neutrophilic dermatosis,Familial Mediterranean fever, autosomal dominant,familial Mediterranean fever unknown Detail
Pathogenic 2022-04-29 criteria provided, single submitter Autoinflammatory syndrome germline Detail
Likely pathogenic 2021-08-13 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2023-10-23 criteria provided, single submitter Familial Mediterranean fever, autosomal dominant unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.753 familial Mediterranean fever NA CLINVAR 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.2282G>A (p.Arg761His) AND Familial Mediterranean fever ClinVar Detail
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) AND not provided ClinVar Detail
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) AND Autoinflammatory syndrome ClinVar Detail
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) AND Inborn genetic diseases ClinVar Detail
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) AND Familial Mediterranean fever, autosomal dominant ClinVar Detail
NA 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
rs104895097 dbSNP
Genome
hg38
Position
chr16:3,243,205-3,243,205
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
20
East Asian Heterozygous Counts (ExAC)
20
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0023121387283236996
Chromosome Counts in All Race (ExAC)
121334
Allele Counts in All Race (ExAC)
28
Heterozygous Counts in All Race (ExAC)
28
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.3076796281339113E-4
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