chr16:3293257:C>A Detail (hg19) (MEFV)

Information

Genome

Assembly Position
hg19 chr16:3,293,257-3,293,257
hg38 chr16:3,243,257-3,243,257 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000243.2:c.2230G>T NP_000234.1:p.Ala744Ser
NM_001198536.1:c.*434G>T
Ensemble ENST00000219596.6:c.2230G>T ENST00000219596.6:p.Ala744Ser
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 2024-03-26 criteria provided, conflicting interpretations familial Mediterranean fever germline not provided unknown Detail
Conflicting interpretations of pathogenicity 2023-11-10 criteria provided, conflicting interpretations not provided germline unknown Detail
Pathogenic 2017-11-28 criteria provided, single submitter familial Mediterranean fever,Familial Mediterranean fever, autosomal dominant germline Detail
Pathogenic 2017-11-28 criteria provided, single submitter familial Mediterranean fever,Familial Mediterranean fever, autosomal dominant germline Detail
Uncertain significance 2023-03-09 criteria provided, single submitter not specified germline Detail
Pathogenic 2021-11-23 criteria provided, multiple submitters, no conflicts Acute febrile neutrophilic dermatosis,Familial Mediterranean fever, autosomal dominant,familial Mediterranean fever germline unknown Detail
Pathogenic 2021-11-23 criteria provided, multiple submitters, no conflicts Acute febrile neutrophilic dermatosis,Familial Mediterranean fever, autosomal dominant,familial Mediterranean fever germline unknown Detail
Pathogenic 2021-11-23 criteria provided, multiple submitters, no conflicts Acute febrile neutrophilic dermatosis,Familial Mediterranean fever, autosomal dominant,familial Mediterranean fever germline unknown Detail
Pathogenic Likely pathogenic 2023-10-31 criteria provided, multiple submitters, no conflicts Familial Mediterranean fever, autosomal dominant germline unknown Detail
Pathogenic 2022-04-05 criteria provided, single submitter Autoinflammatory syndrome germline Detail
Uncertain significance 2017-08-23 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2024-02-24 criteria provided, single submitter MEFV-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.753 familial Mediterranean fever NA CLINVAR Detail
0.010 Henoch-Schoenlein purpura MEFV gene mutations (M694V, V726A, M680I, and A744S) in Iranian children with He... BeFree 22783597 Detail
0.753 familial Mediterranean fever Analysis for FMF mutations in the control group revealed that 5 (5%) individuals... BeFree 16273767 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) AND Familial Mediterranean fever ClinVar Detail
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) AND not provided ClinVar Detail
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) AND not specified ClinVar Detail
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) AND Familial Mediterranean fever, autosomal dominant ClinVar Detail
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) AND Autoinflammatory syndrome ClinVar Detail
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) AND Inborn genetic diseases ClinVar Detail
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) AND MEFV-related disorder ClinVar Detail
NA DisGeNET Detail
MEFV gene mutations (M694V, V726A, M680I, and A744S) in Iranian children with Henoch-Schönlein purpu... DisGeNET Detail
Analysis for FMF mutations in the control group revealed that 5 (5%) individuals bore MEFV gene muta... 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
rs61732874 dbSNP
Genome
hg19
Position
chr16:3,293,257-3,293,257
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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)
121396
Allele Counts in All Race (ExAC)
180
Heterozygous Counts in All Race (ExAC)
176
Homozygous Counts in All Race (ExAC)
2
Allele Frequency in All Race (ExAC)
0.0014827506672378003
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