chr1:182554557:C>T Detail (hg19) (RNASEL)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:182,554,557-182,554,557 |
| hg38 | chr1:182,585,422-182,585,422 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_021133.3:c.1385G>A | NP_066956.1:p.Arg462Gln |
| Ensemble | ENST00000539397.1:c.1385G>A | ENST00000539397.1:p.Arg462Gln |
| ENST00000367559.7:c.1385G>A | ENST00000367559.7:p.Arg462Gln |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.192 |
| ToMMo:0.202 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.229 |
Prediction
ClinVar
| Clinical Significance |
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Benign
|
Centenarian |
germline
|
MGS000068
(TMGS000140) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
risk factor
|
2002-12-01 | no assertion criteria provided | Prostate cancer, susceptibility to |
germline
|
Detail |
Uncertain significance
|
2022-08-17 | no assertion criteria provided | Prostate cancer, hereditary, 1 |
germline
|
Detail |
|
Likely benign
|
2024-01-23 | criteria provided, single submitter | Hereditary cancer |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Hereditary Nonpolyposis Colorectal Cancer | The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of dis... | BeFree | 17224235 | Detail |
| 0.160 | colorectal cancer | We have previously reported that the common, functionally different variants Arg... | BeFree | 17224235 | Detail |
| 0.005 | Hereditary Nonpolyposis Colorectal Cancer | We have previously reported that the common, functionally different variants Arg... | BeFree | 17224235 | Detail |
| 0.085 | colorectal carcinoma | We have previously reported that the common, functionally different variants Arg... | BeFree | 17224235 | Detail |
| <0.001 | Metastatic Prostate Carcinoma | We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X... | BeFree | 16114055 | Detail |
| <0.001 | Metastatic Prostate Carcinoma | We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X... | BeFree | 16114055 | Detail |
| 0.062 | Malignant neoplasm of prostate | We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X... | BeFree | 16114055 | Detail |
| 0.003 | colorectal cancer | We have previously reported that the common, functionally different variants Arg... | BeFree | 17224235 | Detail |
| 0.062 | Malignant neoplasm of prostate | RNASEL Arg462Gln polymorphism and prostate cancer in PLCO. | BeFree | 17407163 | Detail |
| 0.364 | Prostate cancer, familial | The RNASEL (encoding ribonuclease L) gene Glu265X mutation has been implicated i... | BeFree | 15981205 | Detail |
| 0.364 | Prostate cancer, familial | Genotyping of HPC2/ELAC2 variants (S217L, A541T), along with RNASEL variants (R4... | BeFree | 18767027 | Detail |
| 0.014 | prostate carcinoma | There are questions regarding the prevalence of xenotropic murine leukemia virus... | BeFree | 20936978 | Detail |
| <0.001 | Multiple polyps | Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL a... | BeFree | 16054567 | Detail |
| 0.062 | Malignant neoplasm of prostate | To answer questions regarding the prevalence of XMRV in Iranian patients with pr... | BeFree | 23098452 | Detail |
| 0.062 | Malignant neoplasm of prostate | Although an increasing number of studies report an association between the RNASE... | BeFree | 15330212 | Detail |
| 0.062 | Malignant neoplasm of prostate | RNASEL Asp541Glu and Arg462Gln polymorphisms in prostate cancer risk: evidences ... | BeFree | 21656378 | Detail |
| 0.014 | prostate carcinoma | RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases. | BeFree | 12415269 | Detail |
| 0.014 | prostate carcinoma | RNASEL Asp541Glu and Arg462Gln polymorphisms in prostate cancer risk: evidences ... | BeFree | 21656378 | Detail |
| <0.001 | colorectal carcinoma | Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL a... | BeFree | 16054567 | Detail |
| <0.001 | Pancreatic carcinoma, familial | Our results suggest that RNASEL variants Glu265X and Arg462Gln may contribute to... | BeFree | 15981205 | Detail |
| 0.062 | Malignant neoplasm of prostate | Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL a... | BeFree | 16054567 | Detail |
| <0.001 | Carcinogenesis | Our results suggest that RNASEL variants Glu265X and Arg462Gln may contribute to... | BeFree | 15981205 | Detail |
| 0.172 | Prostatic Neoplasms | A novel gammaretrovirus named xenotropic murine leukemia virus-related virus (XM... | BeFree | 19835577 | Detail |
| 0.172 | Prostatic Neoplasms | Identification of a novel Gammaretrovirus in prostate tumors of patients homozyg... | BeFree | 16609730 | Detail |
| 0.003 | Malignant neoplasm of breast | Lack of association between RNASEL Arg462Gln variant and the risk of breast canc... | BeFree | 15330212 | Detail |
| <0.001 | breast carcinoma | Lack of association between RNASEL Arg462Gln variant and the risk of breast canc... | BeFree | 15330212 | Detail |
| 0.014 | prostate carcinoma | Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL a... | BeFree | 16054567 | Detail |
| 0.014 | prostate carcinoma | Although an increasing number of studies report an association between the RNASE... | BeFree | 15330212 | Detail |
| 0.062 | Malignant neoplasm of prostate | There are questions regarding the prevalence of xenotropic murine leukemia virus... | BeFree | 20936978 | Detail |
| 0.003 | colorectal cancer | Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL a... | BeFree | 16054567 | Detail |
| 0.062 | Malignant neoplasm of prostate | Xenotropic murine leukemia virus (MLV)-related virus (XMRV) was initially identi... | BeFree | 21447170 | Detail |
| 0.062 | Malignant neoplasm of prostate | RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases. | BeFree | 12415269 | Detail |
| 0.014 | prostate carcinoma | To answer questions regarding the prevalence of XMRV in Iranian patients with pr... | BeFree | 23098452 | Detail |
| 0.014 | prostate carcinoma | RNASEL Arg462Gln polymorphism and prostate cancer in PLCO. | BeFree | 17407163 | Detail |
| 0.062 | Malignant neoplasm of prostate | This suggests that among Caucasians, positive association between higher trans-f... | BeFree | 17234723 | Detail |
| 0.014 | prostate carcinoma | Xenotropic murine leukemia virus (MLV)-related virus (XMRV) was initially identi... | BeFree | 21447170 | Detail |
| 0.014 | prostate carcinoma | This suggests that among Caucasians, positive association between higher trans-f... | BeFree | 17234723 | Detail |
| <0.001 | colorectal carcinoma | We have previously reported that the common, functionally different variants Arg... | BeFree | 17224235 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln) AND Prostate cancer, susceptibility to | ClinVar | Detail |
| NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln) AND Prostate cancer, hereditary, 1 | ClinVar | Detail |
| NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln) AND Hereditary cancer | ClinVar | Detail |
| The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch ... | DisGeNET | Detail |
| We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg... | DisGeNET | Detail |
| We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg... | DisGeNET | Detail |
| We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg... | DisGeNET | Detail |
| We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X, aIVS5-59c), and RN... | DisGeNET | Detail |
| We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X, aIVS5-59c), and RN... | DisGeNET | Detail |
| We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X, aIVS5-59c), and RN... | DisGeNET | Detail |
| We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg... | DisGeNET | Detail |
| RNASEL Arg462Gln polymorphism and prostate cancer in PLCO. | DisGeNET | Detail |
| The RNASEL (encoding ribonuclease L) gene Glu265X mutation has been implicated in familial prostate ... | DisGeNET | Detail |
| Genotyping of HPC2/ELAC2 variants (S217L, A541T), along with RNASEL variants (R462Q and E541D) was c... | DisGeNET | Detail |
| There are questions regarding the prevalence of xenotropic murine leukemia virus-related virus (XMRV... | DisGeNET | Detail |
| Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of h... | DisGeNET | Detail |
| To answer questions regarding the prevalence of XMRV in Iranian patients with prostate cancer and it... | DisGeNET | Detail |
| Although an increasing number of studies report an association between the RNASEL G1385A variant and... | DisGeNET | Detail |
| RNASEL Asp541Glu and Arg462Gln polymorphisms in prostate cancer risk: evidences from a meta-analysis... | DisGeNET | Detail |
| RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases. | DisGeNET | Detail |
| RNASEL Asp541Glu and Arg462Gln polymorphisms in prostate cancer risk: evidences from a meta-analysis... | DisGeNET | Detail |
| Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of h... | DisGeNET | Detail |
| Our results suggest that RNASEL variants Glu265X and Arg462Gln may contribute to the tumorigenesis o... | DisGeNET | Detail |
| Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of h... | DisGeNET | Detail |
| Our results suggest that RNASEL variants Glu265X and Arg462Gln may contribute to the tumorigenesis o... | DisGeNET | Detail |
| A novel gammaretrovirus named xenotropic murine leukemia virus-related virus (XMRV) has been recentl... | DisGeNET | Detail |
| Identification of a novel Gammaretrovirus in prostate tumors of patients homozygous for R462Q RNASEL... | DisGeNET | Detail |
| Lack of association between RNASEL Arg462Gln variant and the risk of breast cancer. | DisGeNET | Detail |
| Lack of association between RNASEL Arg462Gln variant and the risk of breast cancer. | DisGeNET | Detail |
| Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of h... | DisGeNET | Detail |
| Although an increasing number of studies report an association between the RNASEL G1385A variant and... | DisGeNET | Detail |
| There are questions regarding the prevalence of xenotropic murine leukemia virus-related virus (XMRV... | DisGeNET | Detail |
| Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of h... | DisGeNET | Detail |
| Xenotropic murine leukemia virus (MLV)-related virus (XMRV) was initially identified in prostate can... | DisGeNET | Detail |
| RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases. | DisGeNET | Detail |
| To answer questions regarding the prevalence of XMRV in Iranian patients with prostate cancer and it... | DisGeNET | Detail |
| RNASEL Arg462Gln polymorphism and prostate cancer in PLCO. | DisGeNET | Detail |
| This suggests that among Caucasians, positive association between higher trans-fatty acid consumptio... | DisGeNET | Detail |
| Xenotropic murine leukemia virus (MLV)-related virus (XMRV) was initially identified in prostate can... | DisGeNET | Detail |
| This suggests that among Caucasians, positive association between higher trans-fatty acid consumptio... | DisGeNET | Detail |
| We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg... | 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
- rs486907 dbSNP
- Genome
- hg19
- Position
- chr1:182,554,557-182,554,557
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1197
- Mean of sample read depth (HGVD)
- 104.57
- Standard deviation of sample read depth (HGVD)
- 44.24
- Number of reference allele (HGVD)
- 1934
- Number of alternative allele (HGVD)
- 460
- Allele Frequency (HGVD)
- 0.1921470342522974
- Gene Symbol (HGVD)
- RNASEL
- 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))
- rs486907
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2021
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3388
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8648
- East Asian Allele Counts (ExAC)
- 1981
- East Asian Heterozygous Counts (ExAC)
- 1513
- East Asian Homozygous Counts (ExAC)
- 234
- East Asian Allele Frequency (ExAC)
- 0.22907030527289546
- Chromosome Counts in All Race (ExAC)
- 121364
- Allele Counts in All Race (ExAC)
- 37492
- Heterozygous Counts in All Race (ExAC)
- 24860
- Homozygous Counts in All Race (ExAC)
- 6316
- Allele Frequency in All Race (ExAC)
- 0.30892192083319603
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