chr5:1293545:G>A Detail (hg19) (TERT)

Information

Genome

Assembly Position
hg19 chr5:1,293,545-1,293,545
hg38 chr5:1,293,430-1,293,430 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001193376.1:c.1456C>T NP_001180305.1:p.Arg486Cys
NM_198253.2:c.1456C>T NP_937983.2:p.Arg486Cys
Ensemble ENST00000310581.10:c.1456C>T ENST00000310581.10:p.Arg486Cys
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
not provided no assertion provided interstitial lung disease 2 unknown Detail
Likely pathogenic 2022-05-19 criteria provided, single submitter Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 germline Detail
Likely pathogenic 2016-05-04 criteria provided, single submitter dyskeratosis congenita,Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2016-05-04 criteria provided, single submitter dyskeratosis congenita,Hereditary cancer-predisposing syndrome germline Detail
Likely risk allele 2022-06-09 no assertion criteria provided germline Detail
Uncertain significance 2021-12-17 criteria provided, single submitter Dyskeratosis congenita, autosomal dominant 2,Idiopathic Pulmonary Fibrosis germline Detail
Uncertain significance 2021-12-17 criteria provided, single submitter Dyskeratosis congenita, autosomal dominant 2,Idiopathic Pulmonary Fibrosis germline 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.1456C>T (p.Arg486Cys) AND Interstitial lung disease 2 ClinVar Detail
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys) AND Pulmonary fibrosis and/or bone marrow failure, Telomer... ClinVar Detail
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys) AND Pulmonary fibrosis ClinVar Detail
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys) AND multiple conditions 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
rs199422293 dbSNP
Genome
hg19
Position
chr5:1,293,545-1,293,545
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser