chr16:3254463:C>T Detail (hg38) (MEFV)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:3,304,463-3,304,463 View the variant detail on this assembly version. |
| hg38 | chr16:3,254,463-3,254,463 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000243.2:c.605G>A | NP_000234.1:p.Arg202Gln |
| NM_001198536.1:c.277+1848G>A | ||
| Ensemble | ENST00000219596.6:c.605G>A | ENST00000219596.6:p.Arg202Gln |
Summary
MGeND
| Clinical significance |
Likely pathogenic
Pathogenic
Uncertain significance
|
| Variant entry | 7 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.033 |
| ToMMo:0.034 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.047 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| 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 | ||||
|
Likely pathogenic
|
other |
germline
|
MGS000001
(TMGS000174) |
Kenjiro Kosaki | Keio University | ||||
|
Uncertain significance
|
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 |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | familial Mediterranean fever |
germline
|
Detail |
|
Benign
|
2023-11-12 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Benign
|
2023-11-29 | criteria provided, single submitter | not provided |
germline
unknown
|
Detail |
|
Benign
|
2021-07-01 | criteria provided, single submitter | Familial Mediterranean fever, autosomal dominant |
germline
|
Detail |
|
Benign
|
2022-01-20 | criteria provided, single submitter | Autoinflammatory syndrome |
germline
|
Detail |
|
Benign
|
2014-08-12 | criteria provided, single submitter | Inborn genetic diseases |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.753 | familial Mediterranean fever | She was later found to carry the complex allele E148Q/R202Q/P369S/R408Q of MEFV,... | BeFree | 23861027 | Detail |
| 0.753 | familial Mediterranean fever | R202Q alteration of the MEFV gene leads to symptoms consistent with FMF in some ... | BeFree | 24718488 | Detail |
| 0.753 | familial Mediterranean fever | The mutational analysis of the patient revealed a compound heterozygous E148Q/R2... | BeFree | 18824843 | Detail |
| 0.753 | familial Mediterranean fever | The results of this study showed that there was a high association between MEFV ... | BeFree | 22771921 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) AND Familial Mediterranean fever | ClinVar | Detail |
| NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) AND not specified | ClinVar | Detail |
| NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) AND not provided | ClinVar | Detail |
| NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) AND Familial Mediterranean fever, autosomal dominant | ClinVar | Detail |
| NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) AND Autoinflammatory syndrome | ClinVar | Detail |
| NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) AND Inborn genetic diseases | ClinVar | Detail |
| She was later found to carry the complex allele E148Q/R202Q/P369S/R408Q of MEFV, the gene responsibl... | DisGeNET | Detail |
| R202Q alteration of the MEFV gene leads to symptoms consistent with FMF in some cases. | DisGeNET | Detail |
| The mutational analysis of the patient revealed a compound heterozygous E148Q/R202Q mutation in exon... | DisGeNET | Detail |
| The results of this study showed that there was a high association between MEFV gene R202Q polymorph... | 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
- rs224222 dbSNP
- Genome
- hg38
- Position
- chr16:3,254,463-3,254,463
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1152
- Mean of sample read depth (HGVD)
- 59.90
- Standard deviation of sample read depth (HGVD)
- 27.89
- Number of reference allele (HGVD)
- 2228
- Number of alternative allele (HGVD)
- 76
- Allele Frequency (HGVD)
- 0.03298611111111111
- 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))
- rs224222
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0344
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 576
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 6264
- East Asian Allele Counts (ExAC)
- 295
- East Asian Heterozygous Counts (ExAC)
- 285
- East Asian Homozygous Counts (ExAC)
- 5
- East Asian Allele Frequency (ExAC)
- 0.04709450830140485
- Chromosome Counts in All Race (ExAC)
- 93846
- Allele Counts in All Race (ExAC)
- 23978
- Heterozygous Counts in All Race (ExAC)
- 17702
- Homozygous Counts in All Race (ExAC)
- 3138
- Allele Frequency in All Race (ExAC)
- 0.25550369754704516
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