chr5:1295234:A>G Detail (hg38) (TERT, LOC110806263)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:1,295,349-1,295,349 View the variant detail on this assembly version. |
| hg38 | chr5:1,295,234-1,295,234 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.253 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2018-10-24 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Benign
|
2019-10-31 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Benign
|
2024-01-19 | criteria provided, single submitter | Dyskeratosis congenita, autosomal dominant 2,Idiopathic Pulmonary Fibrosis |
germline
|
Detail |
|
Benign
|
2024-01-19 | criteria provided, single submitter | Dyskeratosis congenita, autosomal dominant 2,Idiopathic Pulmonary Fibrosis |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.009 | breast carcinoma | The aim of our study was to investigate the association of allelic variants of t... | BeFree | 25296732 | Detail |
| 0.138 | Malignant neoplasm of breast | The aim of our study was to investigate the association of allelic variants of t... | BeFree | 25296732 | Detail |
| <0.001 | Recurrent tumor | Our data showed that a common polymorphism rs2853669, within a preexisting Ets2 ... | BeFree | 24101484 | Detail |
| 0.004 | prostate carcinoma | TERT polymorphisms rs2853669 and rs7726159 influence on prostate cancer risk in ... | BeFree | 25296732 | Detail |
| 0.126 | Malignant neoplasm of prostate | TERT polymorphisms rs2853669 and rs7726159 influence on prostate cancer risk in ... | BeFree | 25296732 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_198253.2(TERT):c.-245T>C AND not provided | ClinVar | Detail |
| NM_198253.2(TERT):c.-245T>C AND not specified | ClinVar | Detail |
| NM_198253.2(TERT):c.-245T>C AND multiple conditions | ClinVar | Detail |
| NM_198253.2(TERT):c.-245T>C AND multiple conditions | ClinVar | Detail |
| The aim of our study was to investigate the association of allelic variants of three functional poly... | DisGeNET | Detail |
| The aim of our study was to investigate the association of allelic variants of three functional poly... | DisGeNET | Detail |
| Our data showed that a common polymorphism rs2853669, within a preexisting Ets2 binding site in the ... | DisGeNET | Detail |
| TERT polymorphisms rs2853669 and rs7726159 influence on prostate cancer risk in Russian population. | DisGeNET | Detail |
| TERT polymorphisms rs2853669 and rs7726159 influence on prostate cancer risk in Russian population. | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs2853669 dbSNP
- Genome
- hg38
- Position
- chr5:1,295,234-1,295,234
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- 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))
- rs2853669
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2532
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4243
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16756
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