chr16:3299586:G>T Detail (hg19) (MEFV)

Information

Genome

Assembly Position
hg19 chr16:3,299,586-3,299,586
hg38 chr16:3,249,586-3,249,586 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000243.2:c.1105C>A NP_000234.1:p.Pro369Thr
NM_001198536.1:c.472C>A NP_001185465.1:p.Pro158Thr
Ensemble ENST00000536379.5:c.472C>A ENST00000536379.5:p.Pro158Thr
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
Uncertain significance 2023-02-08 criteria provided, multiple submitters, no conflicts familial Mediterranean fever germline Detail
Uncertain significance 2020-01-19 criteria provided, single submitter not specified germline Detail
Uncertain significance 2021-11-10 criteria provided, single submitter familial Mediterranean fever,Acute febrile neutrophilic dermatosis,Familial Mediterranean fever, autosomal dominant unknown Detail
Uncertain significance 2021-11-10 criteria provided, single submitter familial Mediterranean fever,Acute febrile neutrophilic dermatosis,Familial Mediterranean fever, autosomal dominant unknown Detail
Uncertain significance 2021-11-10 criteria provided, single submitter familial Mediterranean fever,Acute febrile neutrophilic dermatosis,Familial Mediterranean fever, autosomal dominant unknown Detail
Likely benign 2023-02-08 criteria provided, single submitter Familial Mediterranean fever, autosomal dominant germline Detail
Likely benign 2023-02-08 criteria provided, single submitter Acute febrile neutrophilic dermatosis germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.753 familial Mediterranean fever MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagn... UNIPROT 10364520 Detail
0.009 brucellosis Mediterranean fever (MEFV) variant P369S/R408Q in a patient with entero-Behçet's... BeFree 25318808 Detail
0.753 familial Mediterranean fever A genetic examination disclosed compound heterozygous MEFV mutations (E84K, P369... BeFree 26027984 Detail
0.142 Behcet Syndrome Mediterranean fever (MEFV) variant P369S/R408Q in a patient with entero-Behçet's... BeFree 25318808 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 She was later found to carry the complex allele E148Q/R202Q/P369S/R408Q of MEFV,... BeFree 23861027 Detail
0.753 familial Mediterranean fever NA CLINVAR 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.1105C>A (p.Pro369Thr) AND Familial Mediterranean fever ClinVar Detail
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr) AND not specified ClinVar Detail
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr) AND Familial Mediterranean fever, autosomal dominant ClinVar Detail
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr) AND Acute febrile neutrophilic dermatosis ClinVar Detail
MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfa... DisGeNET Detail
Mediterranean fever (MEFV) variant P369S/R408Q in a patient with entero-Behçet's disease who success... DisGeNET Detail
A genetic examination disclosed compound heterozygous MEFV mutations (E84K, P369S), and familial Med... DisGeNET Detail
Mediterranean fever (MEFV) variant P369S/R408Q in a patient with entero-Behçet's disease who success... DisGeNET Detail
We screened 207 BD patients who had no symptoms and family history for FMF and 200 healthy subjects ... DisGeNET Detail
She was later found to carry the complex allele E148Q/R202Q/P369S/R408Q of MEFV, the gene responsibl... DisGeNET Detail
NA 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
rs11466023 dbSNP
Genome
hg19
Position
chr16:3,299,586-3,299,586
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8608
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)
120502
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.149308725166387E-5
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