chr5:1294397:C>T Detail (hg19) (TERT)

Information

Genome

Assembly Position
hg19 chr5:1,294,397-1,294,397
hg38 chr5:1,294,282-1,294,282 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001193376.1:c.604G>A NP_001180305.1:p.Ala202Thr
NM_198253.2:c.604G>A NP_937983.2:p.Ala202Thr
Ensemble ENST00000310581.10:c.604G>A ENST00000310581.10:p.Ala202Thr
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-01-25 criteria provided, single submitter Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 germline Detail
Uncertain significance 2018-01-25 criteria provided, single submitter aplastic anemia germline unknown Detail
Conflicting interpretations of pathogenicity 2023-02-15 criteria provided, conflicting interpretations not provided germline Detail
Uncertain significance 2024-02-06 criteria provided, multiple submitters, no conflicts not specified germline Detail
Conflicting interpretations of pathogenicity 2022-08-23 criteria provided, conflicting interpretations Dyskeratosis congenita, autosomal dominant 2 germline Detail
Uncertain significance 2021-10-31 criteria provided, single submitter dyskeratosis congenita germline Detail
Uncertain significance 2018-01-22 criteria provided, single submitter Hereditary cancer-predisposing syndrome,dyskeratosis congenita germline Detail
Uncertain significance 2018-01-22 criteria provided, single submitter Hereditary cancer-predisposing syndrome,dyskeratosis congenita germline Detail
Likely benign 2024-01-31 criteria provided, single submitter Dyskeratosis congenita, autosomal dominant 2,Idiopathic Pulmonary Fibrosis germline Detail
Likely benign 2024-01-31 criteria provided, single submitter Dyskeratosis congenita, autosomal dominant 2,Idiopathic Pulmonary Fibrosis germline Detail
Likely benign 2022-11-11 criteria provided, single submitter TERT-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.248 aplastic anemia NA CLINVAR Detail
0.240 Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) AND Pulmonary fibrosis and/or bone marrow failure, Telomere... ClinVar Detail
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) AND Aplastic anemia ClinVar Detail
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) AND not provided ClinVar Detail
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) AND not specified ClinVar Detail
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) AND Dyskeratosis congenita, autosomal dominant 2 ClinVar Detail
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) AND Dyskeratosis congenita ClinVar Detail
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) AND TERT-related disorder 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
rs121918661 dbSNP
Genome
hg19
Position
chr5:1,294,397-1,294,397
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
4292
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)
60106
Allele Counts in All Race (ExAC)
21
Heterozygous Counts in All Race (ExAC)
21
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.4938275712907197E-4
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