chr16:69395434:A>G Detail (hg19) (TERF2)

Information

Genome

Assembly Position
hg19 chr16:69,395,434-69,395,434
hg38 chr16:69,361,531-69,361,531 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005652.4:c.1341-42T>C
Ensemble ENST00000254942.8:c.1341-42T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.383
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.347

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 602027 OMIM
HGNC 11729 HGNC
Ensembl ENSG00000132604 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv55944438 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-06-14 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<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_005652.5(TERF2):c.1341-42T>C AND not provided ClinVar 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
rs251796 dbSNP
Genome
hg19
Position
chr16:69,395,434-69,395,434
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))
rs251796
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3828
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6415
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8594
East Asian Allele Counts (ExAC)
2985
East Asian Heterozygous Counts (ExAC)
1937
East Asian Homozygous Counts (ExAC)
524
East Asian Allele Frequency (ExAC)
0.3473353502443565
Chromosome Counts in All Race (ExAC)
120886
Allele Counts in All Race (ExAC)
36732
Heterozygous Counts in All Race (ExAC)
24648
Homozygous Counts in All Race (ExAC)
6042
Allele Frequency in All Race (ExAC)
0.3038565259831577
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