ClinVar Genomic variation as it relates to human health
NM_000029.4(AGT):c.803T>C (p.Met268Thr)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000029.4(AGT):c.803T>C (p.Met268Thr)
Variation ID: 18068 Accession: VCV000018068.28
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 1q42.2 1: 230710048 (GRCh38) [ NCBI UCSC ] 1: 230845794 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Aug 22, 2016 Feb 20, 2024 Jan 31, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNC_000001.11:g.230710048A>G NC_000001.10:g.230845794A>G NG_008836.2:g.9543T>C P01019:p.Met268Thr - Protein change
- Other names
- M235T
- NM_000029.3:c.803T>C
- NM_000029.4:c.803T>C
- Canonical SPDI
- NC_000001.11:230710047:A:G
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.29493 (A)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD), exomes 0.54814
Exome Aggregation Consortium (ExAC) 0.54843
The Genome Aggregation Database (gnomAD) 0.57702
Trans-Omics for Precision Medicine (TOPMed) 0.60376
1000 Genomes Project 0.70507
1000 Genomes Project 30x 0.70612
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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AGT | - | - |
GRCh38 GRCh37 |
180 | 226 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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risk factor (1) |
no assertion criteria provided
|
Jan 1, 2005 | RCV000019692.8 | |
risk factor (1) |
no assertion criteria provided
|
Jan 1, 2005 | RCV000019691.8 | |
Benign (2) |
criteria provided, multiple submitters, no conflicts
|
Jul 14, 2021 | RCV000405686.7 | |
risk factor (1) |
no assertion criteria provided
|
Jan 1, 2005 | RCV000019693.8 | |
Benign (3) |
criteria provided, single submitter
|
- | RCV000242838.9 | |
Benign (2) |
criteria provided, multiple submitters, no conflicts
|
Jan 31, 2024 | RCV000835695.4 | |
Benign (1) |
no assertion criteria provided
|
Oct 12, 2021 | RCV002259306.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Benign
(Mar 13, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000977501.1
First in ClinVar: Aug 26, 2019 Last updated: Aug 26, 2019 |
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
|
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Benign
(Mar 06, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Renal tubular dysgenesis of genetic origin
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000355399.3
First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020 |
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. (less)
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Benign
(-)
|
criteria provided, single submitter
Method: clinical testing
|
NOT SPECIFIED
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV000301563.1
First in ClinVar: Oct 02, 2016 Last updated: Oct 02, 2016 |
|
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Benign
(Jul 14, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Renal tubular dysgenesis of genetic origin
Affected status: no
Allele origin:
germline
|
Genome-Nilou Lab
Accession: SCV001768844.1
First in ClinVar: Aug 07, 2021 Last updated: Aug 07, 2021 |
Sex: mixed
|
|
Benign
(Jan 31, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV002406113.3
First in ClinVar: Apr 11, 2022 Last updated: Feb 20, 2024 |
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Benign
(-)
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no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001955576.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
|
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risk factor
(Jan 01, 2005)
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no assertion criteria provided
Method: literature only
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IgA NEPHROPATHY, PROGRESSION TO RENAL FAILURE IN, SUSCEPTIBILITY TO
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000039991.6
First in ClinVar: Apr 04, 2013 Last updated: Nov 11, 2023 |
Comment on evidence:
By 3 sets of observations, i.e., genetic linkage, allelic associations, and differences in plasma angiotensinogen concentrations among AGT genotypes, in a sample of families from … (more)
By 3 sets of observations, i.e., genetic linkage, allelic associations, and differences in plasma angiotensinogen concentrations among AGT genotypes, in a sample of families from 2 different populations, Salt Lake City and Paris, Jeunemaitre et al. (1992) demonstrated involvement of the AGT gene in essential hypertension. Hypertension showed association with 2 distinct amino acid substitutions, M235T and T174M. The 2 variants showed complete linkage disequilibrium; T174M occurred on a subset of the haplotypes carrying the M235T variant, and both haplotypes were observed at higher frequency among hypertensives. Whether M235T directly mediates a predisposition to hypertension, or an unidentified risk factor is common to both haplotypes, or each haplotype harbors a distinct factor is uncertain. Lifton et al. (1993) found the M235T variant to be very frequent among African Americans who as a group have a high prevalence of hypertension. The frequency of T235 homozygotes was 70%, with 28% for T235 heterozygotes and only 2% for M235 homozygotes; the corresponding figures were 12%, 46%, and 42% in Caucasians. Lifton et al. (1993) suggested that the T235 allele may have been the ancestral form, and, in an earlier period of salt scarcity, increased salt and water retention associated with T235 may have been an advantage. After the Diaspora from Africa to salt-rich areas, M235 may have become fixed or had some advantage. Russ et al. (1993) described a rapid method for detection of the M235T polymorphism. It is well known that blood pressure increases faster over time in black children than in white children and that in adults, hypertension is more prevalent in blacks. In a study of 148 white and 62 black normotensive children, Bloem et al. (1995) found that the frequency of the T235 allele was 0.81 in blacks and 0.42 in whites. The mean angiotensinogen level was 19% higher in blacks than in whites. This racial difference in the renin-angiotensin system may contribute to the disparity in blood pressure levels in white and black young people. In Rochester, Minnesota, Fornage et al. (1995) studied a population-based sample consisting of 104 subjects diagnosed with hypertension before age 60 and 195 matched normotensive individuals to determine the relationship between M235T and essential hypertension. The authors used 2 methods: contingency chi-square analysis of association and a multivariable conditional logistic regression for variation at the M235T polymorphism as a significant predictor of the probability of having essential hypertension. They detected no statistically significant association in either gender or in a subset of severely hypertensive subjects requiring 2 or more antihypertensive medications. Furthermore, variation in the number of M235T alleles made no significant contribution to predicting the probability of having hypertension, either alone or in conjunction with other predictor variables. See also Niu et al. (1998). Frossard et al. (1998) studied the association between the M235T and T174M variants in residents of the United Arab Emirates (Emirati), an ethnic group characterized by no alcohol intake and no cigarette smoking. T174M showed no correlation with any of the 4 clinical entities included in the study (essential hypertension, left ventricular hypertrophy, ischemic heart disease, and myocardial infarction), but the T235 allele occurred more frequently in the essential hypertension group and less frequently in the group of myocardial infarction survivors. They also found that the T235 allele frequencies decreased with age, suggesting that in the Emirati population, T235 alleles are associated with a reduced life span. Preeclampsia Susceptibility In a series of Caucasian women with pregnancy-induced hypertension, Ward et al. (1993) observed significant association of preeclampsia (see 189800) with the M235T variant. The finding was corroborated in a sample ascertained in Japan. Arngrimsson et al. (1993) studied involvement of the ATG gene in preeclampsia and eclampsia by linkage studies with a highly informative dinucleotide repeat from the 3-prime flanking region of the ATG gene. They used a nonparametric method, i.e., one in which the mode of inheritance, gene frequency, and penetrance did not have to be specified. Their results supported the findings of Ward et al. (1993). In a study of 150 'coloured' South African patients, 50 with normal pregnancies, 50 with severe preeclampsia, and 50 with abruptio placentae, Hillermann et al. (2005) found no association between the M235T variant of the AGT gene and preeclampsia or abruptio placentae. Progression to Renal Failure in IgA Nephropathy Studying the met235-to-thr polymorphism of the AGT gene in 168 Caucasian patients with IgA nephropathy (161950), Pei et al. (1997) found that patients with the AGT MT (79) and TT (29) genotypes had a faster rate of deterioration of creatinine clearance than those with the MM (60) genotype. Similarly, patients with AGT MT and TT genotypes had higher maximal values of proteinuria than those with the MM genotype. Multivariant analysis detected an interaction between the AGT and ACE gene polymorphisms, with the presence of ACE/DD polymorphism (106180.0001) adversely affecting disease progression only in patients with the AGT/MM genotype. Neither of these gene polymorphisms was associated with systemic hypertension. Thus, Pei et al. (1997) suggested that polymorphisms at the AGT and ACE gene loci are important markers for predicting progression to chronic renal failure in Caucasian patients with IgA nephropathy. (less)
|
|
risk factor
(Jan 01, 2005)
|
no assertion criteria provided
Method: literature only
|
HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000039989.6
First in ClinVar: Apr 04, 2013 Last updated: Nov 11, 2023 |
Comment on evidence:
By 3 sets of observations, i.e., genetic linkage, allelic associations, and differences in plasma angiotensinogen concentrations among AGT genotypes, in a sample of families from … (more)
By 3 sets of observations, i.e., genetic linkage, allelic associations, and differences in plasma angiotensinogen concentrations among AGT genotypes, in a sample of families from 2 different populations, Salt Lake City and Paris, Jeunemaitre et al. (1992) demonstrated involvement of the AGT gene in essential hypertension. Hypertension showed association with 2 distinct amino acid substitutions, M235T and T174M. The 2 variants showed complete linkage disequilibrium; T174M occurred on a subset of the haplotypes carrying the M235T variant, and both haplotypes were observed at higher frequency among hypertensives. Whether M235T directly mediates a predisposition to hypertension, or an unidentified risk factor is common to both haplotypes, or each haplotype harbors a distinct factor is uncertain. Lifton et al. (1993) found the M235T variant to be very frequent among African Americans who as a group have a high prevalence of hypertension. The frequency of T235 homozygotes was 70%, with 28% for T235 heterozygotes and only 2% for M235 homozygotes; the corresponding figures were 12%, 46%, and 42% in Caucasians. Lifton et al. (1993) suggested that the T235 allele may have been the ancestral form, and, in an earlier period of salt scarcity, increased salt and water retention associated with T235 may have been an advantage. After the Diaspora from Africa to salt-rich areas, M235 may have become fixed or had some advantage. Russ et al. (1993) described a rapid method for detection of the M235T polymorphism. It is well known that blood pressure increases faster over time in black children than in white children and that in adults, hypertension is more prevalent in blacks. In a study of 148 white and 62 black normotensive children, Bloem et al. (1995) found that the frequency of the T235 allele was 0.81 in blacks and 0.42 in whites. The mean angiotensinogen level was 19% higher in blacks than in whites. This racial difference in the renin-angiotensin system may contribute to the disparity in blood pressure levels in white and black young people. In Rochester, Minnesota, Fornage et al. (1995) studied a population-based sample consisting of 104 subjects diagnosed with hypertension before age 60 and 195 matched normotensive individuals to determine the relationship between M235T and essential hypertension. The authors used 2 methods: contingency chi-square analysis of association and a multivariable conditional logistic regression for variation at the M235T polymorphism as a significant predictor of the probability of having essential hypertension. They detected no statistically significant association in either gender or in a subset of severely hypertensive subjects requiring 2 or more antihypertensive medications. Furthermore, variation in the number of M235T alleles made no significant contribution to predicting the probability of having hypertension, either alone or in conjunction with other predictor variables. See also Niu et al. (1998). Frossard et al. (1998) studied the association between the M235T and T174M variants in residents of the United Arab Emirates (Emirati), an ethnic group characterized by no alcohol intake and no cigarette smoking. T174M showed no correlation with any of the 4 clinical entities included in the study (essential hypertension, left ventricular hypertrophy, ischemic heart disease, and myocardial infarction), but the T235 allele occurred more frequently in the essential hypertension group and less frequently in the group of myocardial infarction survivors. They also found that the T235 allele frequencies decreased with age, suggesting that in the Emirati population, T235 alleles are associated with a reduced life span. Preeclampsia Susceptibility In a series of Caucasian women with pregnancy-induced hypertension, Ward et al. (1993) observed significant association of preeclampsia (see 189800) with the M235T variant. The finding was corroborated in a sample ascertained in Japan. Arngrimsson et al. (1993) studied involvement of the ATG gene in preeclampsia and eclampsia by linkage studies with a highly informative dinucleotide repeat from the 3-prime flanking region of the ATG gene. They used a nonparametric method, i.e., one in which the mode of inheritance, gene frequency, and penetrance did not have to be specified. Their results supported the findings of Ward et al. (1993). In a study of 150 'coloured' South African patients, 50 with normal pregnancies, 50 with severe preeclampsia, and 50 with abruptio placentae, Hillermann et al. (2005) found no association between the M235T variant of the AGT gene and preeclampsia or abruptio placentae. Progression to Renal Failure in IgA Nephropathy Studying the met235-to-thr polymorphism of the AGT gene in 168 Caucasian patients with IgA nephropathy (161950), Pei et al. (1997) found that patients with the AGT MT (79) and TT (29) genotypes had a faster rate of deterioration of creatinine clearance than those with the MM (60) genotype. Similarly, patients with AGT MT and TT genotypes had higher maximal values of proteinuria than those with the MM genotype. Multivariant analysis detected an interaction between the AGT and ACE gene polymorphisms, with the presence of ACE/DD polymorphism (106180.0001) adversely affecting disease progression only in patients with the AGT/MM genotype. Neither of these gene polymorphisms was associated with systemic hypertension. Thus, Pei et al. (1997) suggested that polymorphisms at the AGT and ACE gene loci are important markers for predicting progression to chronic renal failure in Caucasian patients with IgA nephropathy. (less)
|
|
risk factor
(Jan 01, 2005)
|
no assertion criteria provided
Method: literature only
|
PREECLAMPSIA, SUSCEPTIBILITY TO
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000039990.6
First in ClinVar: Apr 04, 2013 Last updated: Nov 11, 2023 |
Comment on evidence:
By 3 sets of observations, i.e., genetic linkage, allelic associations, and differences in plasma angiotensinogen concentrations among AGT genotypes, in a sample of families from … (more)
By 3 sets of observations, i.e., genetic linkage, allelic associations, and differences in plasma angiotensinogen concentrations among AGT genotypes, in a sample of families from 2 different populations, Salt Lake City and Paris, Jeunemaitre et al. (1992) demonstrated involvement of the AGT gene in essential hypertension. Hypertension showed association with 2 distinct amino acid substitutions, M235T and T174M. The 2 variants showed complete linkage disequilibrium; T174M occurred on a subset of the haplotypes carrying the M235T variant, and both haplotypes were observed at higher frequency among hypertensives. Whether M235T directly mediates a predisposition to hypertension, or an unidentified risk factor is common to both haplotypes, or each haplotype harbors a distinct factor is uncertain. Lifton et al. (1993) found the M235T variant to be very frequent among African Americans who as a group have a high prevalence of hypertension. The frequency of T235 homozygotes was 70%, with 28% for T235 heterozygotes and only 2% for M235 homozygotes; the corresponding figures were 12%, 46%, and 42% in Caucasians. Lifton et al. (1993) suggested that the T235 allele may have been the ancestral form, and, in an earlier period of salt scarcity, increased salt and water retention associated with T235 may have been an advantage. After the Diaspora from Africa to salt-rich areas, M235 may have become fixed or had some advantage. Russ et al. (1993) described a rapid method for detection of the M235T polymorphism. It is well known that blood pressure increases faster over time in black children than in white children and that in adults, hypertension is more prevalent in blacks. In a study of 148 white and 62 black normotensive children, Bloem et al. (1995) found that the frequency of the T235 allele was 0.81 in blacks and 0.42 in whites. The mean angiotensinogen level was 19% higher in blacks than in whites. This racial difference in the renin-angiotensin system may contribute to the disparity in blood pressure levels in white and black young people. In Rochester, Minnesota, Fornage et al. (1995) studied a population-based sample consisting of 104 subjects diagnosed with hypertension before age 60 and 195 matched normotensive individuals to determine the relationship between M235T and essential hypertension. The authors used 2 methods: contingency chi-square analysis of association and a multivariable conditional logistic regression for variation at the M235T polymorphism as a significant predictor of the probability of having essential hypertension. They detected no statistically significant association in either gender or in a subset of severely hypertensive subjects requiring 2 or more antihypertensive medications. Furthermore, variation in the number of M235T alleles made no significant contribution to predicting the probability of having hypertension, either alone or in conjunction with other predictor variables. See also Niu et al. (1998). Frossard et al. (1998) studied the association between the M235T and T174M variants in residents of the United Arab Emirates (Emirati), an ethnic group characterized by no alcohol intake and no cigarette smoking. T174M showed no correlation with any of the 4 clinical entities included in the study (essential hypertension, left ventricular hypertrophy, ischemic heart disease, and myocardial infarction), but the T235 allele occurred more frequently in the essential hypertension group and less frequently in the group of myocardial infarction survivors. They also found that the T235 allele frequencies decreased with age, suggesting that in the Emirati population, T235 alleles are associated with a reduced life span. Preeclampsia Susceptibility In a series of Caucasian women with pregnancy-induced hypertension, Ward et al. (1993) observed significant association of preeclampsia (see 189800) with the M235T variant. The finding was corroborated in a sample ascertained in Japan. Arngrimsson et al. (1993) studied involvement of the ATG gene in preeclampsia and eclampsia by linkage studies with a highly informative dinucleotide repeat from the 3-prime flanking region of the ATG gene. They used a nonparametric method, i.e., one in which the mode of inheritance, gene frequency, and penetrance did not have to be specified. Their results supported the findings of Ward et al. (1993). In a study of 150 'coloured' South African patients, 50 with normal pregnancies, 50 with severe preeclampsia, and 50 with abruptio placentae, Hillermann et al. (2005) found no association between the M235T variant of the AGT gene and preeclampsia or abruptio placentae. Progression to Renal Failure in IgA Nephropathy Studying the met235-to-thr polymorphism of the AGT gene in 168 Caucasian patients with IgA nephropathy (161950), Pei et al. (1997) found that patients with the AGT MT (79) and TT (29) genotypes had a faster rate of deterioration of creatinine clearance than those with the MM (60) genotype. Similarly, patients with AGT MT and TT genotypes had higher maximal values of proteinuria than those with the MM genotype. Multivariant analysis detected an interaction between the AGT and ACE gene polymorphisms, with the presence of ACE/DD polymorphism (106180.0001) adversely affecting disease progression only in patients with the AGT/MM genotype. Neither of these gene polymorphisms was associated with systemic hypertension. Thus, Pei et al. (1997) suggested that polymorphisms at the AGT and ACE gene loci are important markers for predicting progression to chronic renal failure in Caucasian patients with IgA nephropathy. (less)
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001742891.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
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Benign
(Oct 12, 2021)
|
no assertion criteria provided
Method: reference population
|
hypertension
Affected status: unknown
Allele origin:
unknown
|
iDNA Genomics
Accession: SCV002538645.1
First in ClinVar: Jul 02, 2022 Last updated: Jul 02, 2022 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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The Glu298Asp variant of the endothelial nitric oxide synthase gene is associated with an increased risk for abruptio placentae in pre-eclampsia. | Hillermann R | Journal of human genetics | 2005 | PMID: 16059745 |
Associations of angiotensinogen gene mutations with hypertension and myocardial infarction in a gulf population. | Frossard PM | Clinical genetics | 1998 | PMID: 9831339 |
Angiotensinogen gene and hypertension in Chinese. | Niu T | The Journal of clinical investigation | 1998 | PMID: 9421481 |
Association of angiotensinogen gene T235 variant with progression of immunoglobin A nephropathy in Caucasian patients. | Pei Y | The Journal of clinical investigation | 1997 | PMID: 9259580 |
The serum angiotensinogen concentration and variants of the angiotensinogen gene in white and black children. | Bloem LJ | The Journal of clinical investigation | 1995 | PMID: 7883995 |
Variation at the M235T locus of the angiotensinogen gene and essential hypertension: a population-based case-control study from Rochester, Minnesota. | Fornage M | Human genetics | 1995 | PMID: 7649545 |
Rapid detection of the hypertension-associated Met235-->Thr allele of the human angiotensinogen gene. | Russ AP | Human molecular genetics | 1993 | PMID: 8518804 |
A molecular variant of angiotensinogen associated with preeclampsia. | Ward K | Nature genetics | 1993 | PMID: 8513325 |
Angiotensinogen: a candidate gene involved in preeclampsia? | Arngrímsson R | Nature genetics | 1993 | PMID: 8348146 |
Molecular basis of human hypertension: role of angiotensinogen. | Jeunemaitre X | Cell | 1992 | PMID: 1394429 |
Lifton, R. P., Warnock, D., Acton, R. T., Harman, L., Lalouel, J. M. High prevalence of hypertension-associated angiotensinogen variant T235 in African Americans. (Abstract) Clin. Res. 41: 260A, 1993. | - | - | - | - |
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Text-mined citations for rs699 ...
HelpRecord last updated Apr 15, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.