chr16:3243407:T>C Detail (hg38) (MEFV, LOC126862264)

Information

Genome

Assembly Position
hg19 chr16:3,293,407-3,293,407 View the variant detail on this assembly version.
hg38 chr16:3,243,407-3,243,407

HGVS

Type Transcript Protein
RefSeq NM_000243.2:c.2080A>G NP_000234.1:p.Met694Val
NM_001198536.1:c.*284A>G
Ensemble ENST00000219596.6:c.2080A>G ENST00000219596.6:p.Met694Val
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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 Pathogenic Likely pathogenic
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 tgv393702000 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 MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-01-29 criteria provided, multiple submitters, no conflicts familial Mediterranean fever germline maternal unknown Detail
Pathogenic 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic criteria provided, single submitter Macrocephaly,cryptorchidism,Global developmental delay germline Detail
Pathogenic criteria provided, single submitter Macrocephaly,cryptorchidism,Global developmental delay germline Detail
Pathogenic criteria provided, single submitter Macrocephaly,cryptorchidism,Global developmental delay germline Detail
Pathogenic criteria provided, single submitter microcephaly,brachydactyly germline Detail
Pathogenic criteria provided, single submitter microcephaly,brachydactyly germline Detail
Pathogenic 2021-05-03 criteria provided, multiple submitters, no conflicts familial Mediterranean fever,Familial Mediterranean fever, autosomal dominant germline unknown Detail
Pathogenic 2021-05-03 criteria provided, multiple submitters, no conflicts familial Mediterranean fever,Familial Mediterranean fever, autosomal dominant germline unknown Detail
Pathogenic Likely pathogenic 2023-02-10 criteria provided, multiple submitters, no conflicts Familial Mediterranean fever, autosomal dominant de novo germline unknown Detail
Pathogenic 2020-02-25 criteria provided, single submitter Acute febrile neutrophilic dermatosis unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Familial Mediterranean fever, autosomal dominant,Acute febrile neutrophilic dermatosis,familial Mediterranean fever unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Familial Mediterranean fever, autosomal dominant,Acute febrile neutrophilic dermatosis,familial Mediterranean fever unknown Detail
Pathogenic 2021-06-30 criteria provided, single submitter Familial Mediterranean fever, autosomal dominant,Acute febrile neutrophilic dermatosis,familial Mediterranean fever unknown Detail
Pathogenic 2022-04-19 criteria provided, single submitter Autoinflammatory syndrome germline Detail
Pathogenic 2018-02-06 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2023-09-06 criteria provided, single submitter germline Detail
Pathogenic 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
Annotation

Annotations

DescrptionSourceLinks
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) AND Familial Mediterranean fever ClinVar Detail
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) AND not provided ClinVar Detail
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) AND Familial Mediterranean fever, autosomal dominant ClinVar Detail
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) AND Acute febrile neutrophilic dermatosis ClinVar Detail
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) AND Autoinflammatory syndrome ClinVar Detail
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) AND Inborn genetic diseases ClinVar Detail
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) AND Recurrent fever ClinVar Detail
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) AND MEFV-related disorder ClinVar 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
rs61752717 dbSNP
Genome
hg38
Position
chr16:3,243,407-3,243,407
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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)
121408
Allele Counts in All Race (ExAC)
28
Heterozygous Counts in All Race (ExAC)
28
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.3062730627306272E-4
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