chr5:1280331:C>T Detail (hg19) (TERT)

Information

Genome

Assembly Position
hg19 chr5:1,280,331-1,280,331
hg38 chr5:1,280,216-1,280,216 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001193376.1:c.1892G>A NP_001180305.1:p.Arg631Gln
NM_198253.2:c.1892G>A NP_937983.2:p.Arg631Gln
Ensemble ENST00000310581.10:c.1892G>A ENST00000310581.10:p.Arg631Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2008-06-01 no assertion criteria provided Dyskeratosis congenita, autosomal dominant 2 germline Detail
Pathogenic 2018-05-06 no assertion criteria provided interstitial lung disease 2 germline unknown Detail
Pathogenic 2017-11-23 criteria provided, single submitter Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 germline Detail
Pathogenic 2022-11-10 criteria provided, single submitter Hereditary cancer-predisposing syndrome,dyskeratosis congenita germline Detail
Pathogenic 2022-11-10 criteria provided, single submitter Hereditary cancer-predisposing syndrome,dyskeratosis congenita germline Detail
Likely risk allele 2022-06-09 no assertion criteria provided germline Detail
Pathogenic 2023-05-15 criteria provided, single submitter Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 germline Detail
Pathogenic 2023-05-15 criteria provided, single submitter Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 germline Detail
Pathogenic 2022-05-04 no assertion criteria provided not provided germline Detail
Pathogenic 2022-08-01 no assertion criteria provided Telomere syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2 NA CLINVAR Detail
0.493 Idiopathic Pulmonary Fibrosis NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) AND Dyskeratosis congenita, autosomal dominant 2 ClinVar Detail
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) AND Interstitial lung disease 2 ClinVar Detail
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) AND Pulmonary fibrosis and/or bone marrow failure, Telomer... ClinVar Detail
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) AND Pulmonary fibrosis ClinVar Detail
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) AND not provided ClinVar Detail
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln) AND Telomere syndrome 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
rs199422294 dbSNP
Genome
hg19
Position
chr5:1,280,331-1,280,331
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser