chr5:1294086:C>T Detail (hg19) (TERT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:1,294,086-1,294,086 |
| hg38 | chr5:1,293,971-1,293,971 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001193376.1:c.915G>A | NP_001180305.1:p.Ala305= |
| NM_198253.2:c.915G>A | NP_937983.2:p.Ala305= | |
| Ensemble | ENST00000310581.10:c.915G>A | ENST00000310581.10:p.Ala305= |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 2,619 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.248 |
| ToMMo:0.250 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.501 |
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 |
|---|---|---|---|---|---|---|---|---|---|
|
Benign
|
2020/04/20 | cervical part of oesophagus |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | abdominal part of oesophagus |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | upper third of oesophagus |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | middle third of oesophagus |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | lower third of oesophagus |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | oesophagus, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | fundus of stomach |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | body of stomach |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | pyloric antrum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | stomach, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | duodenum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | jejunum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | ileum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | small intestine, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | caecum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | appendix |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | ascending colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | transverse colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | descending colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | sigmoid colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | colon, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | malignant neoplasm of rectosigmoid junction |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | malignant neoplasm of rectum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | anal canal |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | liver cell carcinoma |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | intrahepatic bile duct carcinoma |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | malignant neoplasm of gallbladder |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | extrahepatic bile duct |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | ampulla of vater |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | head of pancreas |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | body of pancreas |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | tail of pancreas |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | ill-defined sites within the digestive system |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
not provided
|
no assertion provided | Dyskeratosis congenita, autosomal dominant 1 |
unknown
|
Detail | |
|
Benign
|
2018-01-13 | criteria provided, single submitter | aplastic anemia |
germline
somatic
|
Detail |
|
Benign
|
2024-01-24 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Benign
|
2021-07-14 | criteria provided, multiple submitters, no conflicts | Dyskeratosis congenita, autosomal dominant 2 |
germline
|
Detail |
|
Benign
|
2021-07-14 | criteria provided, multiple submitters, no conflicts | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
germline
|
Detail |
|
Benign
|
2023-11-16 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Benign
|
2014-12-24 | criteria provided, single submitter | dyskeratosis congenita,Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Benign
|
2014-12-24 | criteria provided, single submitter | dyskeratosis congenita,Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Benign
|
2022-01-28 | criteria provided, single submitter | interstitial lung disease 2,acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 1,Melanoma, cutaneous malignant, susceptibility to, 9,aplastic anemia,Dyskeratosis congenita, autosomal dominant 2,Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
unknown
|
Detail |
|
Benign
|
2022-01-28 | criteria provided, single submitter | interstitial lung disease 2,acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 1,Melanoma, cutaneous malignant, susceptibility to, 9,aplastic anemia,Dyskeratosis congenita, autosomal dominant 2,Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
unknown
|
Detail |
|
Benign
|
2022-01-28 | criteria provided, single submitter | interstitial lung disease 2,acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 1,Melanoma, cutaneous malignant, susceptibility to, 9,aplastic anemia,Dyskeratosis congenita, autosomal dominant 2,Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
unknown
|
Detail |
|
Benign
|
2022-01-28 | criteria provided, single submitter | interstitial lung disease 2,acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 1,Melanoma, cutaneous malignant, susceptibility to, 9,aplastic anemia,Dyskeratosis congenita, autosomal dominant 2,Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
unknown
|
Detail |
|
Benign
|
2022-01-28 | criteria provided, single submitter | interstitial lung disease 2,acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 1,Melanoma, cutaneous malignant, susceptibility to, 9,aplastic anemia,Dyskeratosis congenita, autosomal dominant 2,Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
unknown
|
Detail |
|
Benign
|
2022-01-28 | criteria provided, single submitter | interstitial lung disease 2,acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 1,Melanoma, cutaneous malignant, susceptibility to, 9,aplastic anemia,Dyskeratosis congenita, autosomal dominant 2,Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
unknown
|
Detail |
|
Benign
|
2022-01-28 | criteria provided, single submitter | interstitial lung disease 2,acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 1,Melanoma, cutaneous malignant, susceptibility to, 9,aplastic anemia,Dyskeratosis congenita, autosomal dominant 2,Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 |
unknown
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, single submitter | Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, single submitter | Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 |
germline
|
Detail |
|
Benign
|
2023-07-07 | criteria provided, single submitter | acute myeloid leukemia |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Colonic Polyps | None of the investigated TERT SNPs (rs2736122, rs2853676, rs2735940, rs2736098, ... | BeFree | 22495810 | Detail |
| 0.002 | glioblastoma | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3... | BeFree | 21350045 | Detail |
| <0.001 | glioblastoma | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3... | BeFree | 21350045 | Detail |
| 0.155 | Malignant neoplasm of lung | A common genetic variant, telomerase reverse transcriptase (TERT) rs2736098, was... | BeFree | 24260099 | Detail |
| 0.012 | adenocarcinoma | The TERT-rs2736098 T allele was also associated with increased lung cancer risk ... | BeFree | 24861918 | Detail |
| <0.001 | Carcinoma, Small Cell | The results revealed that the variant homozygote TERT rs2736098TT was associated... | BeFree | 24761905 | Detail |
| 0.257 | Glioma | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3... | BeFree | 21350045 | Detail |
| 0.001 | Nasopharyngeal carcinoma | Four out of six genetic variants implicated in the recent NPC GWAS were associat... | BeFree | 23085811 | Detail |
| <0.001 | Small cell carcinoma of lung | The results revealed that the variant homozygote TERT rs2736098TT was associated... | BeFree | 24761905 | Detail |
| 0.018 | glioblastoma | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3... | BeFree | 21350045 | Detail |
| 0.241 | liver carcinoma | The TERT rs2736098 T allele was also significantly associated with the level of ... | BeFree | 25339005 | Detail |
| 0.123 | Malignant neoplasm of pancreas | Genome-wide association study identifies multiple susceptibility loci for pancre... | GWASCAT | 25086665 | Detail |
| 0.157 | liver carcinoma | This study attempts to clarify the genetic predisposition to hepatocellular carc... | BeFree | 23392802 | Detail |
| 0.015 | Carcinoma of lung | A common genetic variant, telomerase reverse transcriptase (TERT) rs2736098, was... | BeFree | 24260099 | Detail |
| 0.252 | Glioma | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3... | BeFree | 21350045 | Detail |
| 0.128 | Non-small cell lung carcinoma | Association between the telomerase reverse transcriptase (TERT) rs2736098 polymo... | BeFree | 24260099 | Detail |
| 0.269 | Glioma | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3... | BeFree | 21350045 | Detail |
| 0.127 | Adenocarcinoma of lung (disorder) | The results revealed that the variant homozygote TERT rs2736098TT was associated... | BeFree | 24761905 | Detail |
| 0.262 | Malignant neoplasm of prostate | The genotypes of 4 single nucleotide polymorphisms previously associated with se... | BeFree | 23246478 | Detail |
| 0.080 | prostate carcinoma | The genotypes of 4 single nucleotide polymorphisms previously associated with se... | BeFree | 23246478 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_198253.3(TERT):c.915G>A (p.Ala305=) AND Dyskeratosis congenita, autosomal dominant 1 | ClinVar | Detail |
| NM_198253.3(TERT):c.915G>A (p.Ala305=) AND Aplastic anemia | ClinVar | Detail |
| NM_198253.3(TERT):c.915G>A (p.Ala305=) AND not specified | ClinVar | Detail |
| NM_198253.3(TERT):c.915G>A (p.Ala305=) AND Dyskeratosis congenita, autosomal dominant 2 | ClinVar | Detail |
| NM_198253.3(TERT):c.915G>A (p.Ala305=) AND Pulmonary fibrosis and/or bone marrow failure, Telomere-r... | ClinVar | Detail |
| NM_198253.3(TERT):c.915G>A (p.Ala305=) AND not provided | ClinVar | Detail |
| NM_198253.3(TERT):c.915G>A (p.Ala305=) AND multiple conditions | ClinVar | Detail |
| NM_198253.3(TERT):c.915G>A (p.Ala305=) AND multiple conditions | ClinVar | Detail |
| NM_198253.3(TERT):c.915G>A (p.Ala305=) AND multiple conditions | ClinVar | Detail |
| NM_198253.3(TERT):c.915G>A (p.Ala305=) AND multiple conditions | ClinVar | Detail |
| NM_198253.3(TERT):c.915G>A (p.Ala305=) AND multiple conditions | ClinVar | Detail |
| NM_198253.3(TERT):c.915G>A (p.Ala305=) AND multiple conditions | ClinVar | Detail |
| NM_198253.3(TERT):c.915G>A (p.Ala305=) AND multiple conditions | ClinVar | Detail |
| NM_198253.3(TERT):c.915G>A (p.Ala305=) AND multiple conditions | ClinVar | Detail |
| NM_198253.3(TERT):c.915G>A (p.Ala305=) AND multiple conditions | ClinVar | Detail |
| NM_198253.3(TERT):c.915G>A (p.Ala305=) AND multiple conditions | ClinVar | Detail |
| NM_198253.3(TERT):c.915G>A (p.Ala305=) AND multiple conditions | ClinVar | Detail |
| NM_198253.3(TERT):c.915G>A (p.Ala305=) AND Acute myeloid leukemia | ClinVar | Detail |
| None of the investigated TERT SNPs (rs2736122, rs2853676, rs2735940, rs2736098, rs2075786, rs2736100... | DisGeNET | Detail |
| Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (... | DisGeNET | Detail |
| Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (... | DisGeNET | Detail |
| A common genetic variant, telomerase reverse transcriptase (TERT) rs2736098, was recently reported t... | DisGeNET | Detail |
| The TERT-rs2736098 T allele was also associated with increased lung cancer risk both in adenocarcino... | DisGeNET | Detail |
| The results revealed that the variant homozygote TERT rs2736098TT was associated with an increased r... | DisGeNET | Detail |
| Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (... | DisGeNET | Detail |
| Four out of six genetic variants implicated in the recent NPC GWAS were associated with NPC risk (p ... | DisGeNET | Detail |
| The results revealed that the variant homozygote TERT rs2736098TT was associated with an increased r... | DisGeNET | Detail |
| Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (... | DisGeNET | Detail |
| The TERT rs2736098 T allele was also significantly associated with the level of the HCC clinical ind... | DisGeNET | Detail |
| Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. | DisGeNET | Detail |
| This study attempts to clarify the genetic predisposition to hepatocellular carcinoma (HCC), focusin... | DisGeNET | Detail |
| A common genetic variant, telomerase reverse transcriptase (TERT) rs2736098, was recently reported t... | DisGeNET | Detail |
| Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (... | DisGeNET | Detail |
| Association between the telomerase reverse transcriptase (TERT) rs2736098 polymorphism and cancer ri... | DisGeNET | Detail |
| Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (... | DisGeNET | Detail |
| The results revealed that the variant homozygote TERT rs2736098TT was associated with an increased r... | DisGeNET | Detail |
| The genotypes of 4 single nucleotide polymorphisms previously associated with serum prostate specifi... | DisGeNET | Detail |
| The genotypes of 4 single nucleotide polymorphisms previously associated with serum prostate specifi... | 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
- rs2736098 dbSNP
- Genome
- hg19
- Position
- chr5:1,294,086-1,294,086
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1159
- Mean of sample read depth (HGVD)
- 60.37
- Standard deviation of sample read depth (HGVD)
- 31.13
- Number of reference allele (HGVD)
- 1742
- Number of alternative allele (HGVD)
- 576
- Allele Frequency (HGVD)
- 0.24849007765314926
- Gene Symbol (HGVD)
- TERT
- 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))
- rs2736098
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2499
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4188
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16756
- East Asian Chromosome Counts (ExAC)
- 1110
- East Asian Allele Counts (ExAC)
- 556
- East Asian Heterozygous Counts (ExAC)
- 360
- East Asian Homozygous Counts (ExAC)
- 98
- East Asian Allele Frequency (ExAC)
- 0.5009009009009009
- Chromosome Counts in All Race (ExAC)
- 27688
- Allele Counts in All Race (ExAC)
- 11199
- Heterozygous Counts in All Race (ExAC)
- 7299
- Homozygous Counts in All Race (ExAC)
- 1950
- Allele Frequency in All Race (ExAC)
- 0.4044712510835019
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