chr5:1282319:C>A Detail (hg19) (TERT)

Information

Genome

Assembly Position
hg19 chr5:1,282,319-1,282,319
hg38 chr5:1,282,204-1,282,204 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001193376.1:c.1769+225G>T
NM_198253.2:c.1769+225G>T
Ensemble ENST00000310581.10:c.1769+225G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.358
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

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 tgv20011511 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-09-14 criteria provided, single submitter not provided germline Detail
Benign 2024-01-29 criteria provided, single submitter Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 germline Detail
Benign 2024-01-29 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
0.009 breast carcinoma The aim of our study was to investigate the association of allelic variants of t... BeFree 25296732 Detail
0.138 Malignant neoplasm of breast The aim of our study was to investigate the association of allelic variants of t... BeFree 25296732 Detail
0.004 prostate carcinoma TERT polymorphisms rs2853669 and rs7726159 influence on prostate cancer risk in ... BeFree 25296732 Detail
0.126 Malignant neoplasm of prostate TERT polymorphisms rs2853669 and rs7726159 influence on prostate cancer risk in ... BeFree 25296732 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_198253.3(TERT):c.1769+225G>T AND not provided ClinVar Detail
NM_198253.3(TERT):c.1769+225G>T AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.1769+225G>T AND multiple conditions ClinVar Detail
The aim of our study was to investigate the association of allelic variants of three functional poly... DisGeNET Detail
The aim of our study was to investigate the association of allelic variants of three functional poly... DisGeNET Detail
TERT polymorphisms rs2853669 and rs7726159 influence on prostate cancer risk in Russian population. DisGeNET Detail
TERT polymorphisms rs2853669 and rs7726159 influence on prostate cancer risk in Russian population. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7726159 dbSNP
Genome
hg19
Position
chr5:1,282,319-1,282,319
Variant Type
snv
Reference Allele
C
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs7726159
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.358
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6000
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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