chr5:1254594:C>T Detail (hg19) (TERT)

Information

Genome

Assembly Position
hg19 chr5:1,254,594-1,254,594
hg38 chr5:1,254,479-1,254,479 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001193376.1:c.3184G>A NP_001180305.1:p.Ala1062Thr
NM_198253.2:c.3184G>A NP_937983.2:p.Ala1062Thr
Ensemble ENST00000334602.10:c.2995G>A ENST00000334602.10:p.Ala999Thr
Summary

MGeND

Clinical significance Uncertain significance
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 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 COSM5019566 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance Esophagus germline MGS000038
(TMGS000091)
Manabu Muto
Ichiro Kinoshita
Kyoto University
Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2009-01-27 no assertion criteria provided Leukemia, acute myeloid, susceptibility to germline Detail
Likely benign 2017-04-27 criteria provided, single submitter aplastic anemia germline unknown Detail
Conflicting interpretations of pathogenicity 2020-03-04 criteria provided, conflicting interpretations not specified germline Detail
Likely benign 2017-04-27 criteria provided, single submitter Dyskeratosis congenita, autosomal dominant 2 germline Detail
Likely benign 2017-04-27 criteria provided, single submitter Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 germline Detail
Likely benign 2019-01-01 criteria provided, single submitter breast carcinoma unknown Detail
Conflicting interpretations of pathogenicity 2023-06-28 criteria provided, conflicting interpretations not provided germline Detail
Benign 2016-10-24 criteria provided, single submitter Hereditary cancer-predisposing syndrome,dyskeratosis congenita germline Detail
Benign 2016-10-24 criteria provided, single submitter Hereditary cancer-predisposing syndrome,dyskeratosis congenita germline Detail
Benign 2024-01-31 criteria provided, single submitter Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 germline Detail
Benign 2024-01-31 criteria provided, single submitter Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.248 aplastic anemia NA CLINVAR Detail
0.125 Leukemia, Myelocytic, Acute Telomerase reverse transcriptase (TERT) A1062T mutation as a prognostic factor i... BeFree 25108601 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) AND Leukemia, acute myeloid, susceptibility to ClinVar Detail
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) AND Aplastic anemia ClinVar Detail
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) AND not specified ClinVar Detail
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) AND Dyskeratosis congenita, autosomal dominant 2 ClinVar Detail
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) AND Pulmonary fibrosis and/or bone marrow failure, Telome... ClinVar Detail
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) AND Breast carcinoma ClinVar Detail
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) AND not provided ClinVar Detail
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
Telomerase reverse transcriptase (TERT) A1062T mutation as a prognostic factor in Egyptian patients ... 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
rs35719940 dbSNP
Genome
hg19
Position
chr5:1,254,594-1,254,594
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8020
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)
112046
Allele Counts in All Race (ExAC)
1496
Heterozygous Counts in All Race (ExAC)
1470
Homozygous Counts in All Race (ExAC)
13
Allele Frequency in All Race (ExAC)
0.013351659139996074
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