chr5:1279341:C>T Detail (hg38) (TERT)

Information

Genome

Assembly Position
hg19 chr5:1,279,456-1,279,456 View the variant detail on this assembly version.
hg38 chr5:1,279,341-1,279,341

HGVS

Type Transcript Protein
RefSeq NM_001193376.1:c.2080G>A NP_001180305.1:p.Val694Met
NM_198253.2:c.2080G>A NP_937983.2:p.Val694Met
Ensemble ENST00000310581.10:c.2080G>A ENST00000310581.10:p.Val694Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2005-04-07 no assertion criteria provided Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 germline Detail
not provided no assertion provided aplastic anemia unknown Detail
Likely pathogenic 2016-05-04 criteria provided, single submitter Hereditary cancer-predisposing syndrome,dyskeratosis congenita germline Detail
Likely pathogenic 2016-05-04 criteria provided, single submitter Hereditary cancer-predisposing syndrome,dyskeratosis congenita germline Detail
Likely risk allele 2022-06-09 no assertion criteria provided germline Detail
Likely pathogenic 2023-09-08 criteria provided, single submitter Dyskeratosis congenita, autosomal dominant 2,Idiopathic Pulmonary Fibrosis germline Detail
Likely pathogenic 2023-09-08 criteria provided, single submitter Dyskeratosis congenita, autosomal dominant 2,Idiopathic Pulmonary Fibrosis germline Detail
Likely pathogenic 2023-11-12 criteria provided, single submitter not provided germline Detail
Uncertain significance 2022-12-28 criteria provided, single submitter TERT-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.248 aplastic anemia 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.2080G>A (p.Val694Met) AND Pulmonary fibrosis and/or bone marrow failure, Telomer... ClinVar Detail
NM_198253.3(TERT):c.2080G>A (p.Val694Met) AND Aplastic anemia ClinVar Detail
NM_198253.3(TERT):c.2080G>A (p.Val694Met) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.2080G>A (p.Val694Met) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.2080G>A (p.Val694Met) AND Pulmonary fibrosis ClinVar Detail
NM_198253.3(TERT):c.2080G>A (p.Val694Met) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.2080G>A (p.Val694Met) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.2080G>A (p.Val694Met) AND not provided ClinVar Detail
NM_198253.3(TERT):c.2080G>A (p.Val694Met) AND TERT-related disorder 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
rs121918662 dbSNP
Genome
hg38
Position
chr5:1,279,341-1,279,341
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser