chr16:3299586:G>A 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>T NP_000234.1:p.Pro369Ser
NM_001198536.1:c.472C>T NP_001185465.1:p.Pro158Ser
Ensemble ENST00000219596.6:c.1105C>T ENST00000219596.6:p.Pro369Ser
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic Uncertain significance
Variant entry 10
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.049
ToMMo:0.054
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.072

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 tgv54446575 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000073
(TMGS000145) 		Kenjiro Kosaki
 Keio University
IRUD
Pathogenic other germline MGS000073
(TMGS000167) 		Kenjiro Kosaki
 Keio University
IRUD
Uncertain significance A case of recurrent serositis consisting with FMF despite the lack of fever germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
Likely pathogenic other germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
Uncertain significance other germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
Likely pathogenic other germline MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-02-01 criteria provided, conflicting interpretations familial Mediterranean fever germline Detail
Benign Likely benign 2023-03-15 criteria provided, multiple submitters, no conflicts not specified germline Detail
Conflicting interpretations of pathogenicity 2024-01-26 criteria provided, conflicting interpretations not provided germline unknown Detail
Uncertain significance 2022-03-02 criteria provided, single submitter not specified germline Detail
Uncertain significance 2022-04-20 criteria provided, single submitter Autoinflammatory syndrome germline Detail
Uncertain significance 2017-03-11 criteria provided, single submitter Inborn genetic diseases 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>T (p.Pro369Ser) AND Familial Mediterranean fever ClinVar Detail
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) AND not specified ClinVar Detail
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) AND not provided ClinVar Detail
NM_000243.2(MEFV):c.[1105C>T;1223G>A] AND not specified ClinVar Detail
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) AND Autoinflammatory syndrome ClinVar Detail
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) AND Inborn genetic diseases 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
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1205
Mean of sample read depth (HGVD)
80.57
Standard deviation of sample read depth (HGVD)
35.93
Number of reference allele (HGVD)
2292
Number of alternative allele (HGVD)
118
Allele Frequency (HGVD)
0.04896265560165975
Gene Symbol (HGVD)
MEFV
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs11466023
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0535
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
896
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8608
East Asian Allele Counts (ExAC)
616
East Asian Heterozygous Counts (ExAC)
566
East Asian Homozygous Counts (ExAC)
25
East Asian Allele Frequency (ExAC)
0.07156133828996282
Chromosome Counts in All Race (ExAC)
120502
Allele Counts in All Race (ExAC)
1715
Heterozygous Counts in All Race (ExAC)
1639
Homozygous Counts in All Race (ExAC)
38
Allele Frequency in All Race (ExAC)
0.014232128927320708
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