chr5:1293767:G>A Detail (hg19) (TERT)

Information

Genome

Assembly Position
hg19 chr5:1,293,767-1,293,767
hg38 chr5:1,293,652-1,293,652 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001193376.1:c.1234C>T NP_001180305.1:p.His412Tyr
NM_198253.2:c.1234C>T NP_937983.2:p.His412Tyr
Ensemble ENST00000310581.10:c.1234C>T ENST00000310581.10:p.His412Tyr
Summary

MGeND

Clinical significance
Variant entry
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 COSM6498515 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2017-04-27 criteria provided, single submitter Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 germline Detail
Likely benign 2017-04-27 criteria provided, single submitter aplastic anemia germline unknown Detail
Pathogenic 2008-02-01 no assertion criteria provided autosomal recessive dyskeratosis congenita 4 germline Detail
Benign Likely benign 2018-11-06 criteria provided, multiple submitters, no conflicts not specified germline Detail
Likely benign 2017-04-27 criteria provided, single submitter Dyskeratosis congenita, autosomal dominant 2 germline Detail
Conflicting interpretations of pathogenicity 2023-10-01 criteria provided, conflicting interpretations not provided germline Detail
Benign 2020-03-26 criteria provided, single submitter dyskeratosis congenita germline Detail
Uncertain significance 2017-08-29 criteria provided, single submitter dyskeratosis congenita,Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2017-08-29 criteria provided, single submitter dyskeratosis congenita,Hereditary cancer-predisposing syndrome 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
Likely benign 2022-11-09 criteria provided, single submitter acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 2,Melanoma, cutaneous malignant, susceptibility to, 9,Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 germline Detail
Likely benign 2022-11-09 criteria provided, single submitter acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 2,Melanoma, cutaneous malignant, susceptibility to, 9,Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 germline Detail
Likely benign 2022-11-09 criteria provided, single submitter acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 2,Melanoma, cutaneous malignant, susceptibility to, 9,Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 germline Detail
Likely benign 2022-11-09 criteria provided, single submitter acute myeloid leukemia,Dyskeratosis congenita, autosomal dominant 2,Melanoma, cutaneous malignant, susceptibility to, 9,Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.248 aplastic anemia NA CLINVAR Detail
0.120 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4 NA CLINVAR Detail
0.240 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic an... UNIPROT 15814878 Detail
0.240 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2 Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic an... UNIPROT 15814878 Detail
0.240 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND Pulmonary fibrosis and/or bone marrow failure, Telomer... ClinVar Detail
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND Aplastic anemia ClinVar Detail
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND Autosomal recessive dyskeratosis congenita 4 ClinVar Detail
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND not specified ClinVar Detail
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND Dyskeratosis congenita, autosomal dominant 2 ClinVar Detail
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND not provided ClinVar Detail
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND Dyskeratosis congenita ClinVar Detail
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. DisGeNET Detail
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. 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
rs34094720 dbSNP
Genome
hg19
Position
chr5:1,293,767-1,293,767
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
1042
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)
19080
Allele Counts in All Race (ExAC)
121
Heterozygous Counts in All Race (ExAC)
117
Homozygous Counts in All Race (ExAC)
2
Allele Frequency in All Race (ExAC)
0.006341719077568134
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