chr5:1293971:C>T Detail (hg38) (TERT)

Information

Genome

Assembly Position
hg19 chr5:1,294,086-1,294,086 View the variant detail on this assembly version.
hg38 chr5:1,293,971-1,293,971

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
Variant entry
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
Links
Type Database ID Link
Gene MIM 187270 OMIM
HGNC 11730 HGNC
Ensembl ENSG00000164362 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv20011937 TogoVar
COSMIC COSM3760904 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
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

DescrptionSourceLinks
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
hg38
Position
chr5:1,293,971-1,293,971
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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