chr5:1266639:C>T Detail (hg19) (TERT)

Information

Genome

Assembly Position
hg19 chr5:1,266,639-1,266,639
hg38 chr5:1,266,524-1,266,524 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001193376.1:c.2594G>A NP_001180305.1:p.Arg865His
NM_198253.2:c.2594G>A NP_937983.2:p.Arg865His
Ensemble ENST00000334602.10:c.2594G>A ENST00000334602.10:p.Arg865His
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 Pathogenic Likely pathogenic
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
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000138) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2022-05-19 criteria provided, single submitter Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 germline Detail
Pathogenic 2018-05-06 no assertion criteria provided interstitial lung disease 2 germline unknown Detail
Pathogenic 2017-10-18 criteria provided, single submitter not provided germline Detail
Likely risk allele 2022-06-09 no assertion criteria provided germline Detail
Pathogenic 2023-11-17 criteria provided, single submitter Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 germline Detail
Pathogenic 2023-11-17 criteria provided, single submitter Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 germline Detail
Pathogenic 2023-10-17 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
0.240 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_198253.3(TERT):c.2594G>A (p.Arg865His) AND Pulmonary fibrosis and/or bone marrow failure, Telomer... ClinVar Detail
NM_198253.3(TERT):c.2594G>A (p.Arg865His) AND Interstitial lung disease 2 ClinVar Detail
NM_198253.3(TERT):c.2594G>A (p.Arg865His) AND not provided ClinVar Detail
NM_198253.3(TERT):c.2594G>A (p.Arg865His) AND Pulmonary fibrosis ClinVar Detail
NM_198253.3(TERT):c.2594G>A (p.Arg865His) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.2594G>A (p.Arg865His) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.2594G>A (p.Arg865His) AND Dyskeratosis congenita, autosomal dominant 2 ClinVar Detail
NA DisGeNET 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
rs121918666 dbSNP
Genome
hg19
Position
chr5:1,266,639-1,266,639
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
6130
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
78240
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.278118609406953E-5
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