rs12721225
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_000685.5(AGTR1):c.730G>T(p.Ala244Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00375 in 1,613,236 control chromosomes in the GnomAD database, including 32 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_000685.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00261 AC: 396AN: 152008Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00370 AC: 924AN: 249984Hom.: 6 AF XY: 0.00420 AC XY: 569AN XY: 135394
GnomAD4 exome AF: 0.00387 AC: 5655AN: 1461110Hom.: 31 Cov.: 34 AF XY: 0.00417 AC XY: 3031AN XY: 726882
GnomAD4 genome AF: 0.00260 AC: 395AN: 152126Hom.: 1 Cov.: 32 AF XY: 0.00252 AC XY: 187AN XY: 74350
ClinVar
Submissions by phenotype
not provided Benign:3
AGTR1: BS2 -
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Renal tubular dysgenesis Benign:1
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, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at