chr5:1272311:C>T Detail (hg19) (TERT)

Information

Genome

Assembly Position
hg19 chr5:1,272,311-1,272,311
hg38 chr5:1,272,196-1,272,196 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001193376.1:c.2371G>A NP_001180305.1:p.Val791Ile
NM_198253.2:c.2371G>A NP_937983.2:p.Val791Ile
Ensemble ENST00000310581.10:c.2371G>A ENST00000310581.10:p.Val791Ile
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 COSM4388725 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2011-03-01 no assertion criteria provided Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 germline Detail
Uncertain significance 2020-11-25 criteria provided, single submitter not provided germline Detail
Likely benign 2024-01-04 criteria provided, single submitter Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 germline Detail
Likely benign 2024-01-04 criteria provided, single submitter Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 germline Detail
Uncertain significance 2023-09-13 criteria provided, multiple submitters, no conflicts Dyskeratosis congenita, autosomal dominant 2 germline unknown Detail
Uncertain significance 2024-04-04 criteria provided, single submitter Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Ancestral mutation in telomerase causes defects in repeat addition processivity ... UNIPROT 21483807 Detail
0.240 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_198253.2(TERT):c.[2371G>A;2599G>A] AND Pulmonary fibrosis and/or bone marrow failure, Telomere-re... ClinVar Detail
NM_198253.3(TERT):c.2371G>A (p.Val791Ile) AND not provided ClinVar Detail
NM_198253.3(TERT):c.2371G>A (p.Val791Ile) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.2371G>A (p.Val791Ile) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.2371G>A (p.Val791Ile) AND Dyskeratosis congenita, autosomal dominant 2 ClinVar Detail
NM_198253.3(TERT):c.2371G>A (p.Val791Ile) AND Pulmonary fibrosis and/or bone marrow failure, Telomer... ClinVar Detail
Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as fam... 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
rs201159197 dbSNP
Genome
hg19
Position
chr5:1,272,311-1,272,311
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Chromosome Counts in All Race (ExAC)
92316
Allele Counts in All Race (ExAC)
16
Heterozygous Counts in All Race (ExAC)
16
Homozygous Counts in All Race (ExAC)
0
East Asian Chromosome Counts (ExAC)
6614
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.5119443604475356E-4
Allele Frequency in All Race (ExAC)
1.7331773473720698E-4
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