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NM_000030.3(AGXT):c.976G>A (p.Val326Ile)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 27, 2020
Accession:
VCV000204058.5
Variation ID:
204058
Description:
single nucleotide variant
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NM_000030.3(AGXT):c.976G>A (p.Val326Ile)

Allele ID
200591
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q37.3
Genomic location
2: 240878055 (GRCh38) GRCh38 UCSC
2: 241817472 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P21549:p.Val326Ile
NC_000002.11:g.241817472G>A
NC_000002.12:g.240878055G>A
... more HGVS
Protein change
V326I
Other names
-
Canonical SPDI
NC_000002.12:240878054:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00359 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00092
The Genome Aggregation Database (gnomAD) 0.00347
1000 Genomes Project 0.00359
Exome Aggregation Consortium (ExAC) 0.00124
Trans-Omics for Precision Medicine (TOPMed) 0.00370
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00469
Links
ClinGen: CA275602
UniProtKB: P21549#VAR_060570
dbSNP: rs115057148
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, single submitter Apr 28, 2017 RCV000186264.2
Benign 1 criteria provided, single submitter - RCV000245721.1
Benign 1 criteria provided, single submitter Nov 27, 2020 RCV000974721.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AGXT - - GRCh38
GRCh37
450 553

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000301575.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Apr 28, 2017)
criteria provided, single submitter
Method: clinical testing
Primary hyperoxaluria, type I
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001299624.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Nov 27, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001122570.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Nov 27, 2014)
no assertion criteria provided
Method: in vitro
Primary hyperoxaluria, type I
Allele origin: germline
Clinical Biochemistry Laboratory,Health Services Laboratory
Accession: SCV000239588.1
Submitted: (Nov 27, 2014)
Evidence details
Publications
PubMed (1)

Functional evidence

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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 this variant

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Title Author Journal Year Link
The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans. Coulter-Mackie MB Molecular genetics and metabolism 2003 PMID: 12559847
http://www.uclh.nhs.uk/OurServices/ServiceA-Z/PATH/PATHBIOMED/CBIO/Documents/AGXT%20mutation%20database.pdf - - - -

Text-mined citations for rs115057148...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 18, 2021