rs121917811
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000686.5(AGTR2):āc.1009A>Gā(p.Ile337Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000179 in 111,605 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).
Frequency
Consequence
NM_000686.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AGTR2 | ENST00000371906.5 | c.1009A>G | p.Ile337Val | missense_variant | Exon 3 of 3 | 1 | NM_000686.5 | ENSP00000360973.4 | ||
AGTR2 | ENST00000681852.1 | c.1009A>G | p.Ile337Val | missense_variant | Exon 2 of 2 | ENSP00000505750.1 | ||||
AGTR2 | ENST00000680409.1 | n.1477A>G | non_coding_transcript_exon_variant | Exon 1 of 1 |
Frequencies
GnomAD3 genomes AF: 0.0000179 AC: 2AN: 111605Hom.: 0 Cov.: 23 AF XY: 0.0000296 AC XY: 1AN XY: 33805
GnomAD3 exomes AF: 0.00000546 AC: 1AN: 183084Hom.: 0 AF XY: 0.0000148 AC XY: 1AN XY: 67674
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 9.11e-7 AC: 1AN: 1097808Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 1AN XY: 363308
GnomAD4 genome AF: 0.0000179 AC: 2AN: 111605Hom.: 0 Cov.: 23 AF XY: 0.0000296 AC XY: 1AN XY: 33805
ClinVar
Submissions by phenotype
not provided Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at