chr5:1279675:C>T Detail (hg38) (TERT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:1,279,790-1,279,790 View the variant detail on this assembly version. |
| hg38 | chr5:1,279,675-1,279,675 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001193376.1:c.1951-205G>A | |
| NM_198253.2:c.1951-205G>A | ||
| Ensemble | ENST00000310581.10:c.1951-205G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.241 | |
| 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 | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
association
|
2016-09-01 | no assertion criteria provided | Chronic osteomyelitis |
tested-inconclusive
|
Detail |
|
Benign
|
2018-10-24 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Benign
|
2024-01-29 | criteria provided, single submitter | Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 |
germline
|
Detail |
|
Benign
|
2024-01-29 | criteria provided, single submitter | Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | breast carcinoma | Several TL-related single nucleotide polymorphisms had modest association with b... | BeFree | 23629941 | Detail |
| 0.138 | Malignant neoplasm of breast | Genome-wide association studies identify four ER negative-specific breast cancer... | GWASCAT | 23535733 | Detail |
| 0.138 | Malignant neoplasm of breast | Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8... | GWASCAT | 24325915 | Detail |
| 0.121 | Malignant neoplasm of breast | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.120 | Malignant neoplasm of breast | Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8... | BeFree | 24325915 | Detail |
| 0.002 | breast carcinoma | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| <0.001 | diabetes mellitus | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| 0.003 | breast carcinoma | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| <0.001 | breast carcinoma | Several TL-related single nucleotide polymorphisms had modest association with b... | BeFree | 23629941 | Detail |
| <0.001 | diabetes mellitus | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| 0.080 | breast carcinoma | Index SNPs in five loci were replicated, including three associated with ER-/PR-... | BeFree | 23136140 | Detail |
| <0.001 | breast carcinoma | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.031 | breast carcinoma | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| <0.001 | breast carcinoma | Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8... | BeFree | 24325915 | Detail |
| 0.005 | Malignant neoplasm of breast | Several TL-related single nucleotide polymorphisms had modest association with b... | BeFree | 23629941 | Detail |
| <0.001 | Malignant neoplasm of breast | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| <0.001 | Adult type dermatomyositis | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| 0.132 | Malignant neoplasm of breast | Index SNPs in five loci were replicated, including three associated with ER-/PR-... | BeFree | 23136140 | Detail |
| <0.001 | dermatomyositis | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| 0.230 | Malignant neoplasm of breast | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.007 | Malignant neoplasm of breast | Several TL-related single nucleotide polymorphisms had modest association with b... | BeFree | 23629941 | Detail |
| 0.138 | Malignant neoplasm of breast | A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-... | GWASCAT | 22037553 | Detail |
| 0.008 | Malignant neoplasm of breast | Several TL-related single nucleotide polymorphisms had modest association with b... | BeFree | 23629941 | Detail |
| <0.001 | Adult type dermatomyositis | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| 0.003 | dermatomyositis | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| 0.120 | Malignant neoplasm of breast | Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8... | BeFree | 24325915 | Detail |
| 0.121 | Epithelial ovarian cancer | Identification of six new susceptibility loci for invasive epithelial ovarian ca... | GWASCAT | 25581431 | Detail |
| 0.138 | Malignant neoplasm of breast | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.122 | Malignant neoplasm of breast | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.138 | Malignant neoplasm of breast | Several TL-related single nucleotide polymorphisms had modest association with b... | BeFree | 23629941 | Detail |
| <0.001 | diabetes mellitus | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| 0.009 | breast carcinoma | Index SNPs in five loci were replicated, including three associated with ER-/PR-... | BeFree | 23136140 | Detail |
| 0.009 | breast carcinoma | Several TL-related single nucleotide polymorphisms had modest association with b... | BeFree | 23629941 | Detail |
| <0.001 | breast carcinoma | Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8... | BeFree | 24325915 | Detail |
| 0.138 | Malignant neoplasm of breast | Large-scale genotyping identifies 41 new loci associated with breast cancer risk... | GWASCAT | 23535729 | Detail |
| <0.001 | breast carcinoma | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.009 | breast carcinoma | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
| 0.138 | Malignant neoplasm of breast | Index SNPs in five loci were replicated, including three associated with ER-/PR-... | BeFree | 23136140 | Detail |
| <0.001 | polymyositis | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| <0.001 | breast carcinoma | Several TL-related single nucleotide polymorphisms had modest association with b... | BeFree | 23629941 | Detail |
| <0.001 | polymyositis | Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=52... | BeFree | 26320593 | Detail |
| 0.132 | Malignant neoplasm of breast | Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall br... | BeFree | 23593120 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_198253.3(TERT):c.1951-205G>A AND Chronic osteomyelitis | ClinVar | Detail |
| NM_198253.3(TERT):c.1951-205G>A AND not provided | ClinVar | Detail |
| NM_198253.3(TERT):c.1951-205G>A AND multiple conditions | ClinVar | Detail |
| NM_198253.3(TERT):c.1951-205G>A AND multiple conditions | ClinVar | Detail |
| Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk ov... | DisGeNET | Detail |
| Genome-wide association studies identify four ER negative-specific breast cancer risk loci. | DisGeNET | Detail |
| Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk ov... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Index SNPs in five loci were replicated, including three associated with ER-/PR- breast cancer (TERT... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT... | DisGeNET | Detail |
| Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk ov... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Index SNPs in five loci were replicated, including three associated with ER-/PR- breast cancer (TERT... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk ov... | DisGeNET | Detail |
| A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast canc... | DisGeNET | Detail |
| Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk ov... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT... | DisGeNET | Detail |
| Identification of six new susceptibility loci for invasive epithelial ovarian cancer. | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk ov... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Index SNPs in five loci were replicated, including three associated with ER-/PR- breast cancer (TERT... | DisGeNET | Detail |
| Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk ov... | DisGeNET | Detail |
| Associations with TN breast cancer were confirmed for 10 loci (LGR6, MDM4, CASP8, 2q35, 2p24.1, TERT... | DisGeNET | Detail |
| Large-scale genotyping identifies 41 new loci associated with breast cancer risk. | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
| Index SNPs in five loci were replicated, including three associated with ER-/PR- breast cancer (TERT... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Several TL-related single nucleotide polymorphisms had modest association with breast cancer risk ov... | DisGeNET | Detail |
| Chinese polymyositis (PM) patients (n =291), dermatomyositis (DM) patients (n=526) and ethnically-ma... | DisGeNET | Detail |
| Seven SNPs were statistically significant (P ≤ 0.05) with the risk of overall breast cancer in the s... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs10069690 dbSNP
- Genome
- hg38
- Position
- chr5:1,279,675-1,279,675
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs10069690
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2407
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4033
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16756
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