chr16:3248947:G>C Detail (hg38) (MEFV)

Information

Genome

Assembly Position
hg19 chr16:3,298,947-3,298,947 View the variant detail on this assembly version.
hg38 chr16:3,248,947-3,248,947

HGVS

Type Transcript Protein
RefSeq NM_000243.2:c.1318C>G NP_000234.1:p.Gln440Glu
NM_001198536.1:c.685C>G NP_001185465.1:p.Gln229Glu
Ensemble ENST00000219596.6:c.1318C>G ENST00000219596.6:p.Gln440Glu
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 tgv393702277 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-06-09 criteria provided, multiple submitters, no conflicts not provided germline Detail
Conflicting interpretations of pathogenicity 2024-01-29 criteria provided, conflicting interpretations familial Mediterranean fever germline unknown Detail
Uncertain significance 2019-11-22 criteria provided, single submitter Familial Mediterranean fever, autosomal dominant,familial Mediterranean fever germline Detail
Uncertain significance 2019-11-22 criteria provided, single submitter Familial Mediterranean fever, autosomal dominant,familial Mediterranean fever germline Detail
Likely benign 2021-05-22 criteria provided, single submitter not specified germline Detail
Likely benign 2019-04-05 criteria provided, single submitter germline Detail
Likely benign 2020-03-01 criteria provided, single submitter Autoinflammatory syndrome germline Detail
Uncertain significance 2022-06-03 criteria provided, single submitter Acute febrile neutrophilic dermatosis,familial Mediterranean fever,Familial Mediterranean fever, autosomal dominant germline Detail
Uncertain significance 2022-06-03 criteria provided, single submitter Acute febrile neutrophilic dermatosis,familial Mediterranean fever,Familial Mediterranean fever, autosomal dominant germline Detail
Uncertain significance 2022-06-03 criteria provided, single submitter Acute febrile neutrophilic dermatosis,familial Mediterranean fever,Familial Mediterranean fever, autosomal dominant 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.1318C>G (p.Gln440Glu) AND not provided ClinVar Detail
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) AND Familial Mediterranean fever ClinVar Detail
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) AND not specified ClinVar Detail
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) AND See cases ClinVar Detail
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) AND Autoinflammatory syndrome ClinVar Detail
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) AND multiple conditions ClinVar Detail
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) AND multiple conditions 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
rs11466026 dbSNP
Genome
hg38
Position
chr16:3,248,947-3,248,947
Variant Type
snv
Reference Allele
G
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)
121412
Allele Counts in All Race (ExAC)
179
Heterozygous Counts in All Race (ExAC)
179
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.0014743188482192863
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