chr16:3254739:A>G Detail (hg38) (MEFV)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:3,304,739-3,304,739 View the variant detail on this assembly version. |
| hg38 | chr16:3,254,739-3,254,739 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000243.2:c.329T>C | NP_000234.1:p.Leu110Pro |
| NM_001198536.1:c.277+1572T>C | ||
| Ensemble | ENST00000219596.6:c.329T>C | ENST00000219596.6:p.Leu110Pro |
Summary
MGeND
| Clinical significance |
Likely pathogenic
Pathogenic
Uncertain significance
|
| Variant entry | 6 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.074 |
| ToMMo:0.070 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.085 |
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Likely pathogenic
|
other |
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 | ||||
|
Pathogenic
|
Morvan's syndrome |
germline
|
MGS000001
(TMGS000179) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
myasthenia gravis |
germline
|
MGS000001
(TMGS000179) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Conflicting interpretations of pathogenicity
|
2022-05-02 | criteria provided, conflicting interpretations | not specified |
germline
|
Detail |
|
Conflicting interpretations of pathogenicity
|
2024-01-26 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
|
Conflicting interpretations of pathogenicity
|
2024-02-01 | criteria provided, conflicting interpretations | familial Mediterranean fever |
germline
|
Detail |
Benign
|
2021-05-03 | criteria provided, single submitter | Autoinflammatory syndrome |
germline
|
Detail |
|
Uncertain significance
|
2022-05-10 | criteria provided, single submitter | not specified |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.753 | familial Mediterranean fever | A case of familial Mediterranean fever associated with compound heterozygosity f... | BeFree | 19967574 | Detail |
| 0.753 | familial Mediterranean fever | To address the question of their possible Jewish origin, we analysed markers kno... | UNIPROT | 10854105 | Detail |
| 0.753 | familial Mediterranean fever | Common MEFV mutation patterns were E148Q/M694I (25.0%), M694I alone (17.5%), and... | BeFree | 19531756 | Detail |
| 0.753 | familial Mediterranean fever | An initial diagnosis of FMF was suspected based on the genetic analysis, showing... | BeFree | 24835548 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) AND not specified | ClinVar | Detail |
| NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) AND not provided | ClinVar | Detail |
| NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) AND Familial Mediterranean fever | ClinVar | Detail |
| NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) AND Autoinflammatory syndrome | ClinVar | Detail |
| NM_000243.3(MEFV):c.[329T>C;442G>C] AND not specified | ClinVar | Detail |
| A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant... | DisGeNET | Detail |
| To address the question of their possible Jewish origin, we analysed markers known to be linked to t... | DisGeNET | Detail |
| Common MEFV mutation patterns were E148Q/M694I (25.0%), M694I alone (17.5%), and L110P/E148Q/M694I (... | DisGeNET | Detail |
| An initial diagnosis of FMF was suspected based on the genetic analysis, showing the compound hetero... | 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
- rs11466018 dbSNP
- Genome
- hg38
- Position
- chr16:3,254,739-3,254,739
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1191
- Mean of sample read depth (HGVD)
- 46.64
- Standard deviation of sample read depth (HGVD)
- 27.11
- Number of reference allele (HGVD)
- 2205
- Number of alternative allele (HGVD)
- 177
- Allele Frequency (HGVD)
- 0.0743073047858942
- 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))
- rs11466018
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0696
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1167
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8470
- East Asian Allele Counts (ExAC)
- 717
- East Asian Heterozygous Counts (ExAC)
- 663
- East Asian Homozygous Counts (ExAC)
- 27
- East Asian Allele Frequency (ExAC)
- 0.0846517119244392
- Chromosome Counts in All Race (ExAC)
- 115866
- Allele Counts in All Race (ExAC)
- 745
- Heterozygous Counts in All Race (ExAC)
- 691
- Homozygous Counts in All Race (ExAC)
- 27
- Allele Frequency in All Race (ExAC)
- 0.006429841368477379
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