chr5:1266310:A>G Detail (hg19) (TERT)

Information

Genome

Assembly Position
hg19 chr5:1,266,310-1,266,310
hg38 chr5:1,266,195-1,266,195 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001193376.1:c.2654+269T>C
NM_198253.2:c.2654+269T>C
Ensemble ENST00000310581.10:c.2654+269T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.230
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 tgv20010684 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
<0.001 Colonic Polyps None of the investigated TERT SNPs (rs2736122, rs2853676, rs2735940, rs2736098, ... BeFree 22495810 Detail
0.080 Hereditary Nonpolyposis Colorectal Cancer In conclusion, MMR gene mutation carriers with hTERT rs2075786 are at high risk ... BeFree 22948024 Detail
<0.001 Carcinoma of lung POT1 rs10244817, TERT rs2075786, and TERF2 rs251796 were significantly associate... BeFree 19285750 Detail
0.015 Carcinoma of lung POT1 rs10244817, TERT rs2075786, and TERF2 rs251796 were significantly associate... BeFree 19285750 Detail
0.005 Malignant neoplasm of lung POT1 rs10244817, TERT rs2075786, and TERF2 rs251796 were significantly associate... BeFree 19285750 Detail
0.155 Malignant neoplasm of lung POT1 rs10244817, TERT rs2075786, and TERF2 rs251796 were significantly associate... BeFree 19285750 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_198253.3(TERT):c.2654+269T>C AND not provided ClinVar Detail
NM_198253.3(TERT):c.2654+269T>C AND multiple conditions ClinVar Detail
NM_198253.3(TERT):c.2654+269T>C AND multiple conditions ClinVar Detail
None of the investigated TERT SNPs (rs2736122, rs2853676, rs2735940, rs2736098, rs2075786, rs2736100... DisGeNET Detail
In conclusion, MMR gene mutation carriers with hTERT rs2075786 are at high risk to develop a LS-rela... DisGeNET Detail
POT1 rs10244817, TERT rs2075786, and TERF2 rs251796 were significantly associated with lung cancer (... DisGeNET Detail
POT1 rs10244817, TERT rs2075786, and TERF2 rs251796 were significantly associated with lung cancer (... DisGeNET Detail
POT1 rs10244817, TERT rs2075786, and TERF2 rs251796 were significantly associated with lung cancer (... DisGeNET Detail
POT1 rs10244817, TERT rs2075786, and TERF2 rs251796 were significantly associated with lung cancer (... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2075786 dbSNP
Genome
hg19
Position
chr5:1,266,310-1,266,310
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs2075786
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2299
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3852
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16756
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