chr5:1294051:C>T Detail (hg38) (TERT)

Information

Genome

Assembly Position
hg19 chr5:1,294,166-1,294,166 View the variant detail on this assembly version.
hg38 chr5:1,294,051-1,294,051

HGVS

Type Transcript Protein
RefSeq NM_001193376.1:c.835G>A NP_001180305.1:p.Ala279Thr
NM_198253.2:c.835G>A NP_937983.2:p.Ala279Thr
Ensemble ENST00000310581.10:c.835G>A ENST00000310581.10:p.Ala279Thr
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 Benign
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 tgv332370978 TogoVar
COSMIC COSM3760906 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-01-12 criteria provided, single submitter aplastic anemia germline unknown Detail
Benign 2016-12-05 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2018-01-12 criteria provided, single submitter Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 germline Detail
Benign 2023-05-04 criteria provided, multiple submitters, no conflicts Dyskeratosis congenita, autosomal dominant 2 germline Detail
Benign no assertion criteria provided germline Detail
Benign 2023-11-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2014-12-24 criteria provided, single submitter dyskeratosis congenita,Hereditary cancer-predisposing syndrome germline Detail
Benign 2014-12-24 criteria provided, single submitter dyskeratosis congenita,Hereditary cancer-predisposing syndrome germline Detail
Benign 2024-02-01 criteria provided, single submitter Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 germline Detail
Benign 2024-02-01 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
Annotation

Annotations

DescrptionSourceLinks
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) AND Aplastic anemia ClinVar Detail
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) AND not specified ClinVar Detail
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) AND Pulmonary fibrosis and/or bone marrow failure, Telomere... ClinVar Detail
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) AND Dyskeratosis congenita, autosomal dominant 2 ClinVar Detail
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) AND Malignant tumor of breast ClinVar Detail
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) AND not provided ClinVar Detail
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) AND multiple conditions ClinVar 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
rs61748181 dbSNP
Genome
hg38
Position
chr5:1,294,051-1,294,051
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
2638
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
7.58150113722517E-4
Chromosome Counts in All Race (ExAC)
48766
Allele Counts in All Race (ExAC)
1761
Heterozygous Counts in All Race (ExAC)
1709
Homozygous Counts in All Race (ExAC)
26
Allele Frequency in All Race (ExAC)
0.03611122503383505
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