chr16:3293403:T>C Detail (hg19) (MEFV, LOC126862264)

Information

Genome

Assembly Position
hg19 chr16:3,293,403-3,293,403
hg38 chr16:3,243,403-3,243,403 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001198536.1:c.*288A>G
NM_000243.2:c.2084A>G NP_000234.1:p.Lys695Arg
Ensemble ENST00000339854.8:c.1544A>G ENST00000339854.8:p.Lys515Arg
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 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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-01-31 criteria provided, conflicting interpretations familial Mediterranean fever germline not provided unknown Detail
Conflicting interpretations of pathogenicity 2024-04-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Uncertain significance 2016-05-04 no assertion criteria provided urticaria,Peripheral neuropathy unknown Detail
Uncertain significance 2016-05-04 no assertion criteria provided urticaria,Peripheral neuropathy unknown Detail
Uncertain significance 2023-12-07 criteria provided, multiple submitters, no conflicts not specified germline Detail
Uncertain significance 2023-06-07 criteria provided, single submitter Inborn genetic diseases germline Detail
Uncertain significance 2020-10-07 criteria provided, single submitter Familial Mediterranean fever, autosomal dominant,familial Mediterranean fever germline Detail
Uncertain significance 2020-10-07 criteria provided, single submitter Familial Mediterranean fever, autosomal dominant,familial Mediterranean fever germline Detail
Likely pathogenic 2016-09-02 criteria provided, single submitter Heart, malformation of germline Detail
Likely pathogenic 2022-03-10 criteria provided, single submitter Autoinflammatory syndrome germline Detail
Uncertain significance 2021-03-30 criteria provided, single submitter Acute febrile neutrophilic dermatosis,Familial Mediterranean fever, autosomal dominant,familial Mediterranean fever germline Detail
Uncertain significance 2021-03-30 criteria provided, single submitter Acute febrile neutrophilic dermatosis,Familial Mediterranean fever, autosomal dominant,familial Mediterranean fever germline Detail
Uncertain significance 2021-03-30 criteria provided, single submitter Acute febrile neutrophilic dermatosis,Familial Mediterranean fever, autosomal dominant,familial Mediterranean fever germline Detail
Uncertain significance 2023-03-13 criteria provided, single submitter Familial Mediterranean fever, autosomal dominant germline 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 Mutational analysis of the PRYSPRY domain of pyrin and implications for familial... UNIPROT 16730661 Detail
0.753 familial Mediterranean fever MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever. UNIPROT 10612841 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) AND Familial Mediterranean fever ClinVar Detail
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) AND not provided ClinVar Detail
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) AND not specified ClinVar Detail
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) AND Inborn genetic diseases ClinVar Detail
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) AND Autoinflammatory syndrome ClinVar Detail
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) 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
Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever... DisGeNET Detail
MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever. 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
rs104895094 dbSNP
Genome
hg19
Position
chr16:3,293,403-3,293,403
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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)
668
Heterozygous Counts in All Race (ExAC)
660
Homozygous Counts in All Race (ExAC)
4
Allele Frequency in All Race (ExAC)
0.005502017955687341
Genome browser