chr16:3249468:C>T Detail (hg38) (MEFV)

Information

Genome

Assembly Position
hg19 chr16:3,299,468-3,299,468 View the variant detail on this assembly version.
hg38 chr16:3,249,468-3,249,468

HGVS

Type Transcript Protein
RefSeq NM_000243.2:c.1223G>A NP_000234.1:p.Arg408Gln
NM_001198536.1:c.590G>A NP_001185465.1:p.Arg197Gln
Ensemble ENST00000219596.6:c.1223G>A ENST00000219596.6:p.Arg408Gln
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic Uncertain significance
Variant entry 9
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.039
ToMMo:0.046
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.054

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 tgv54446552 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
Likely pathogenic other germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
Uncertain significance A case of recurrent serositis consisting with FMF despite the lack of fever 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 2022-02-23 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 2022-04-04 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
0.142 Behcet Syndrome Mediterranean fever (MEFV) variant P369S/R408Q in a patient with entero-Behçet's... BeFree 25318808 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
Annotation

Annotations

DescrptionSourceLinks
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) AND Familial Mediterranean fever ClinVar Detail
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) AND not specified ClinVar Detail
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) AND not provided ClinVar Detail
NM_000243.2(MEFV):c.[1105C>T;1223G>A] AND not specified ClinVar Detail
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) AND Autoinflammatory syndrome ClinVar Detail
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) 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
Mediterranean fever (MEFV) variant P369S/R408Q in a patient with entero-Behçet's disease who success... 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

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
rs11466024 dbSNP
Genome
hg38
Position
chr16:3,249,468-3,249,468
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1204
Mean of sample read depth (HGVD)
61.46
Standard deviation of sample read depth (HGVD)
29.65
Number of reference allele (HGVD)
2315
Number of alternative allele (HGVD)
93
Allele Frequency (HGVD)
0.038621262458471764
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))
rs11466024
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.046
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
771
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8600
East Asian Allele Counts (ExAC)
465
East Asian Heterozygous Counts (ExAC)
441
East Asian Homozygous Counts (ExAC)
12
East Asian Allele Frequency (ExAC)
0.05406976744186046
Chromosome Counts in All Race (ExAC)
119750
Allele Counts in All Race (ExAC)
1551
Heterozygous Counts in All Race (ExAC)
1501
Homozygous Counts in All Race (ExAC)
25
Allele Frequency in All Race (ExAC)
0.012951983298538623
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