chr21:33415005:A>G Detail (hg38) (IFNGR2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:34,787,312-34,787,312 View the variant detail on this assembly version. |
| hg38 | chr21:33,415,005-33,415,005 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005534.3:c.191A>G | NP_005525.2:p.Gln64Arg |
| NM_001329128.1:c.248A>G | NP_001316057.1:p.Gln83Arg | |
| Ensemble | ENST00000290219.11:c.191A>G | ENST00000290219.11:p.Gln64Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.523 |
| ToMMo:0.543 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.446 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | immunodeficiency 28 |
germline
|
Detail |
|
Benign
|
2021-06-09 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Benign
|
2024-01-24 | criteria provided, single submitter | not specified |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.004 | Lymphoma, Large-Cell, Follicular | A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(for... | BeFree | 20952689 | Detail |
| 0.003 | B-Cell Lymphomas | A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(for... | BeFree | 20952689 | Detail |
| 0.006 | Mucosa-Associated Lymphoid Tissue Lymphoma | After stratification by common B-cell lymphoma subtypes, a significant interacti... | BeFree | 20952689 | Detail |
| 0.050 | Lymphoma, Non-Hodgkin | A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(for... | BeFree | 20952689 | Detail |
| 0.021 | chronic lymphocytic leukemia | After stratification by common B-cell lymphoma subtypes, a significant interacti... | BeFree | 20952689 | Detail |
| 0.010 | B-Cell Lymphomas | A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(for... | BeFree | 20952689 | Detail |
| 0.004 | T-Cell Lymphoma | A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(for... | BeFree | 20952689 | Detail |
| 0.007 | Lymphoma, Follicular | After stratification by common B-cell lymphoma subtypes, a significant interacti... | BeFree | 20952689 | Detail |
| 0.002 | T-Cell Lymphoma | A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(for... | BeFree | 20952689 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005534.4(IFNGR2):c.191A>G (p.Gln64Arg) AND Immunodeficiency 28 | ClinVar | Detail |
| NM_005534.4(IFNGR2):c.191A>G (p.Gln64Arg) AND not provided | ClinVar | Detail |
| NM_005534.4(IFNGR2):c.191A>G (p.Gln64Arg) AND not specified | ClinVar | Detail |
| A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(forinteraction) = .034)... | DisGeNET | Detail |
| A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(forinteraction) = .034)... | DisGeNET | Detail |
| After stratification by common B-cell lymphoma subtypes, a significant interaction was observed for ... | DisGeNET | Detail |
| A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(forinteraction) = .034)... | DisGeNET | Detail |
| After stratification by common B-cell lymphoma subtypes, a significant interaction was observed for ... | DisGeNET | Detail |
| A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(forinteraction) = .034)... | DisGeNET | Detail |
| A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(forinteraction) = .034)... | DisGeNET | Detail |
| After stratification by common B-cell lymphoma subtypes, a significant interaction was observed for ... | DisGeNET | Detail |
| A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(forinteraction) = .034)... | 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
- rs9808753 dbSNP
- Genome
- hg38
- Position
- chr21:33,415,005-33,415,005
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1168
- Mean of sample read depth (HGVD)
- 105.03
- Standard deviation of sample read depth (HGVD)
- 51.61
- Number of reference allele (HGVD)
- 1112
- Number of alternative allele (HGVD)
- 1219
- Allele Frequency (HGVD)
- 0.5229515229515229
- Gene Symbol (HGVD)
- IFNGR2
- 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))
- rs9808753
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5428
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9098
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8632
- East Asian Allele Counts (ExAC)
- 3849
- East Asian Heterozygous Counts (ExAC)
- 2061
- East Asian Homozygous Counts (ExAC)
- 894
- East Asian Allele Frequency (ExAC)
- 0.44589898053753474
- Chromosome Counts in All Race (ExAC)
- 121384
- Allele Counts in All Race (ExAC)
- 23831
- Heterozygous Counts in All Race (ExAC)
- 17929
- Homozygous Counts in All Race (ExAC)
- 2951
- Allele Frequency in All Race (ExAC)
- 0.1963273578066302
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