chr16:3256338:C>T Detail (hg38) (MEFV)

Information

Genome

Assembly Position
hg19 chr16:3,306,338-3,306,338 View the variant detail on this assembly version.
hg38 chr16:3,256,338-3,256,338

HGVS

Type Transcript Protein
RefSeq NM_000243.2:c.250G>A NP_000234.1:p.Glu84Lys
NM_001198536.1:c.250G>A NP_001185465.1:p.Glu84Lys
Ensemble ENST00000219596.6:c.250G>A ENST00000219596.6:p.Glu84Lys
Summary

MGeND

Clinical significance Pathogenic Uncertain significance
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.016
ToMMo:0.017
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.002

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 tgv54447118 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance other germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2022-08-31 criteria provided, conflicting interpretations familial Mediterranean fever germline unknown Detail
Uncertain significance 2019-01-22 criteria provided, single submitter not specified germline Detail
Uncertain significance 2021-11-22 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 A genetic examination disclosed compound heterozygous MEFV mutations (E84K, P369... BeFree 26027984 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys) AND Familial Mediterranean fever ClinVar Detail
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys) AND not specified ClinVar Detail
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys) AND Familial Mediterranean fever, autosomal dominant ClinVar Detail
A genetic examination disclosed compound heterozygous MEFV mutations (E84K, P369S), and familial Med... 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
rs150819742 dbSNP
Genome
hg38
Position
chr16:3,256,338-3,256,338
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
940
Mean of sample read depth (HGVD)
18.77
Standard deviation of sample read depth (HGVD)
12.42
Number of reference allele (HGVD)
1849
Number of alternative allele (HGVD)
31
Allele Frequency (HGVD)
0.01648936170212766
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))
rs150819742
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0169
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
283
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8588
East Asian Allele Counts (ExAC)
13
East Asian Heterozygous Counts (ExAC)
13
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0015137401024685607
Chromosome Counts in All Race (ExAC)
117542
Allele Counts in All Race (ExAC)
14
Heterozygous Counts in All Race (ExAC)
14
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.1910636198124925E-4
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