chr1:230710048:A>G Detail (hg38) (AGT)

Information

Genome

Assembly Position
hg19 chr1:230,845,794-230,845,794 View the variant detail on this assembly version.
hg38 chr1:230,710,048-230,710,048

HGVS

Type Transcript Protein
RefSeq NM_000029.3:c.776T>C NP_000020.1:p.Met259Thr
Ensemble ENST00000366667.6:c.776T>C ENST00000366667.6:p.Met259Thr
ENST00000679684.1:c.776T>C ENST00000679684.1:p.Met259Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.823
ToMMo:0.816
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.838

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 106150 OMIM
HGNC 333 HGNC
Ensembl ENSG00000135744 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv5134998 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2005-01-01 no assertion criteria provided Hypertension, essential, susceptibility to germline Detail
risk factor 2005-01-01 no assertion criteria provided Preeclampsia, susceptibility to germline Detail
risk factor 2005-01-01 no assertion criteria provided Susceptibility to progression to renal failure in IgA nephropathy germline Detail
Benign criteria provided, single submitter not specified germline Detail
Benign 2021-07-14 criteria provided, multiple submitters, no conflicts Renal tubular dysgenesis germline Detail
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2021-10-12 no assertion criteria provided Hypertensive disorder unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.011 Hypertensive disease Hypertension association reached genome-wide significance for the two variants, ... BeFree 22456346 Detail
0.003 Chronic glomerulonephritis We evaluate whether angiotensinogen AGT M235T (rs699), angiotensin-converting en... BeFree 23681285 Detail
<0.001 Chronic glomerulonephritis We evaluate whether angiotensinogen AGT M235T (rs699), angiotensin-converting en... BeFree 23681285 Detail
0.003 Chronic glomerulonephritis We evaluate whether angiotensinogen AGT M235T (rs699), angiotensin-converting en... BeFree 23681285 Detail
0.153 Kidney Diseases ACE ID/DD genotypes in combination with ACE rs4311, rs4343, and AGT rs699 mutant... BeFree 19108684 Detail
0.440 Hypertensive disease When the cohort was stratified by sex, ACE rs4362 and AGT rs699 showed significa... BeFree 24622918 Detail
0.011 Hypertensive disease Although the AGTR1 SNP did not show any association with WMLs, the interaction o... BeFree 24622918 Detail
0.359 Hypertensive disease Although the AGTR1 SNP did not show any association with WMLs, the interaction o... BeFree 24622918 Detail
0.203 Kidney Diseases Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients w... BeFree 24737640 Detail
0.008 Hepatitis C, Chronic Evaluation of angiotensinogen c.1-44G&gt;A and p.M268T variants as risk factors ... BeFree 19473084 Detail
0.440 Hypertensive disease These data further support the hypothesis that hypertension is influenced by the... BeFree 21312059 Detail
0.013 diabetes mellitus Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients w... BeFree 24737640 Detail
0.157 Diabetic Nephropathy The AGT (M268T) genotypes were distributed in DM as TT 30.4%, MT 66.9% and MM 2.... BeFree 24737640 Detail
0.017 Diabetes Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients w... BeFree 24737640 Detail
0.120 IgA NEPHROPATHY, PROGRESSION TO RENAL FAILURE IN, SUSCEPTIBILITY TO NA CLINVAR Detail
0.153 Kidney Diseases Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients w... BeFree 24737640 Detail
0.003 Liver diseases Evaluation of angiotensinogen c.1-44G&gt;A and p.M268T variants as risk factors ... BeFree 19473084 Detail
0.171 essential hypertension Association between the M268T polymorphism in the angiotensinogen gene and essen... BeFree 21312059 Detail
0.034 diabetes mellitus Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients w... BeFree 24737640 Detail
0.007 Diabetes Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients w... BeFree 24737640 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000029.4(AGT):c.803T>C (p.Met268Thr) AND Hypertension, essential, susceptibility to ClinVar Detail
NM_000029.4(AGT):c.803T>C (p.Met268Thr) AND Preeclampsia, susceptibility to ClinVar Detail
NM_000029.4(AGT):c.803T>C (p.Met268Thr) AND Susceptibility to progression to renal failure in IgA ne... ClinVar Detail
NM_000029.4(AGT):c.803T>C (p.Met268Thr) AND not specified ClinVar Detail
NM_000029.4(AGT):c.803T>C (p.Met268Thr) AND Renal tubular dysgenesis ClinVar Detail
NM_000029.4(AGT):c.803T>C (p.Met268Thr) AND not provided ClinVar Detail
NM_000029.4(AGT):c.803T>C (p.Met268Thr) AND Hypertensive disorder ClinVar Detail
Hypertension association reached genome-wide significance for the two variants, specifically, P=7.3 ... DisGeNET Detail
We evaluate whether angiotensinogen AGT M235T (rs699), angiotensin-converting enzyme ACE (I/D) (rs46... DisGeNET Detail
We evaluate whether angiotensinogen AGT M235T (rs699), angiotensin-converting enzyme ACE (I/D) (rs46... DisGeNET Detail
We evaluate whether angiotensinogen AGT M235T (rs699), angiotensin-converting enzyme ACE (I/D) (rs46... DisGeNET Detail
ACE ID/DD genotypes in combination with ACE rs4311, rs4343, and AGT rs699 mutant genotypes increased... DisGeNET Detail
When the cohort was stratified by sex, ACE rs4362 and AGT rs699 showed significant associations with... DisGeNET Detail
Although the AGTR1 SNP did not show any association with WMLs, the interaction of the AGT rs699 and ... DisGeNET Detail
Although the AGTR1 SNP did not show any association with WMLs, the interaction of the AGT rs699 and ... DisGeNET Detail
Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients with diabetes and nep... DisGeNET Detail
Evaluation of angiotensinogen c.1-44G&gt;A and p.M268T variants as risk factors for fibrosis progres... DisGeNET Detail
These data further support the hypothesis that hypertension is influenced by the AGT M268T polymorph... DisGeNET Detail
Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients with diabetes and nep... DisGeNET Detail
The AGT (M268T) genotypes were distributed in DM as TT 30.4%, MT 66.9% and MM 2.6% while in DN subje... DisGeNET Detail
Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients with diabetes and nep... DisGeNET Detail
NA DisGeNET Detail
Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients with diabetes and nep... DisGeNET Detail
Evaluation of angiotensinogen c.1-44G&gt;A and p.M268T variants as risk factors for fibrosis progres... DisGeNET Detail
Association between the M268T polymorphism in the angiotensinogen gene and essential hypertension in... DisGeNET Detail
Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients with diabetes and nep... DisGeNET Detail
Genetic variants of ACE (Insertion/Deletion) and AGT (M268T) genes in patients with diabetes and nep... 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
rs699 dbSNP
Genome
hg38
Position
chr1:230,710,048-230,710,048
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1207
Mean of sample read depth (HGVD)
53.02
Standard deviation of sample read depth (HGVD)
32.09
Number of reference allele (HGVD)
428
Number of alternative allele (HGVD)
1986
Allele Frequency (HGVD)
0.8227009113504556
Gene Symbol (HGVD)
AGT
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))
rs699
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8161
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13677
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8636
East Asian Allele Counts (ExAC)
7235
East Asian Heterozygous Counts (ExAC)
1199
East Asian Homozygous Counts (ExAC)
3018
East Asian Allele Frequency (ExAC)
0.8377721167207041
Chromosome Counts in All Race (ExAC)
121284
Allele Counts in All Race (ExAC)
66516
Heterozygous Counts in All Race (ExAC)
26642
Homozygous Counts in All Race (ExAC)
19937
Allele Frequency in All Race (ExAC)
0.548431779954487
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