chr5:1253798:G>A Detail (hg38) (TERT)

Information

Genome

Assembly Position
hg19 chr5:1,253,913-1,253,913 View the variant detail on this assembly version.
hg38 chr5:1,253,798-1,253,798

HGVS

Type Transcript Protein
RefSeq NM_001193376.1:c.3329C>T NP_001180305.1:p.Thr1110Met
NM_198253.2:c.3329C>T NP_937983.2:p.Thr1110Met
Ensemble ENST00000310581.10:c.3329C>T ENST00000310581.10:p.Thr1110Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
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
COSMIC COSM1567531 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 interstitial lung disease 2 unknown Detail
Uncertain significance 2021-08-04 criteria provided, single submitter Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1,Melanoma, cutaneous malignant, susceptibility to, 9,Dyskeratosis congenita, autosomal dominant 2,interstitial lung disease 2,aplastic anemia,acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 1 unknown Detail
Uncertain significance 2021-08-04 criteria provided, single submitter Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1,Melanoma, cutaneous malignant, susceptibility to, 9,Dyskeratosis congenita, autosomal dominant 2,interstitial lung disease 2,aplastic anemia,acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 1 unknown Detail
Uncertain significance 2021-08-04 criteria provided, single submitter Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1,Melanoma, cutaneous malignant, susceptibility to, 9,Dyskeratosis congenita, autosomal dominant 2,interstitial lung disease 2,aplastic anemia,acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 1 unknown Detail
Uncertain significance 2021-08-04 criteria provided, single submitter Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1,Melanoma, cutaneous malignant, susceptibility to, 9,Dyskeratosis congenita, autosomal dominant 2,interstitial lung disease 2,aplastic anemia,acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 1 unknown Detail
Uncertain significance 2021-08-04 criteria provided, single submitter Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1,Melanoma, cutaneous malignant, susceptibility to, 9,Dyskeratosis congenita, autosomal dominant 2,interstitial lung disease 2,aplastic anemia,acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 1 unknown Detail
Uncertain significance 2021-08-04 criteria provided, single submitter Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1,Melanoma, cutaneous malignant, susceptibility to, 9,Dyskeratosis congenita, autosomal dominant 2,interstitial lung disease 2,aplastic anemia,acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 1 unknown Detail
Uncertain significance 2021-08-04 criteria provided, single submitter Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1,Melanoma, cutaneous malignant, susceptibility to, 9,Dyskeratosis congenita, autosomal dominant 2,interstitial lung disease 2,aplastic anemia,acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 1 unknown Detail
Likely risk allele 2022-06-09 no assertion criteria provided germline Detail
Uncertain significance 2022-10-21 criteria provided, single submitter Dyskeratosis congenita, autosomal dominant 2,Idiopathic Pulmonary Fibrosis germline Detail
Uncertain significance 2022-10-21 criteria provided, single submitter Dyskeratosis congenita, autosomal dominant 2,Idiopathic Pulmonary Fibrosis germline Detail
Uncertain significance 2023-09-19 criteria provided, single submitter not provided germline Detail
Uncertain significance 2023-10-25 criteria provided, single submitter Dyskeratosis congenita, autosomal dominant 2 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.493 Idiopathic Pulmonary Fibrosis NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) AND Interstitial lung disease 2 ClinVar Detail
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) AND Pulmonary fibrosis ClinVar Detail
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) AND not provided ClinVar Detail
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) AND Dyskeratosis congenita, autosomal dominant 2 ClinVar Detail
NA 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
rs199422306 dbSNP
Genome
hg38
Position
chr5:1,253,798-1,253,798
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
7202
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.3885031935573453E-4
Chromosome Counts in All Race (ExAC)
99808
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.009618467457518E-5
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