rs2292779
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_012154.5(AGO2):c.1403+9C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000734 in 1,362,350 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_012154.5 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AGO2 | NM_012154.5 | c.1403+9C>T | intron_variant | Intron 11 of 18 | ENST00000220592.10 | NP_036286.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AGO2 | ENST00000220592.10 | c.1403+9C>T | intron_variant | Intron 11 of 18 | 1 | NM_012154.5 | ENSP00000220592.5 | |||
AGO2 | ENST00000519980.5 | c.1403+9C>T | intron_variant | Intron 11 of 17 | 1 | ENSP00000430176.1 | ||||
AGO2 | ENST00000523609.5 | n.*988+9C>T | intron_variant | Intron 10 of 17 | 1 | ENSP00000430164.1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 152028Hom.: 0 Cov.: 33 FAILED QC
GnomAD4 exome AF: 7.34e-7 AC: 1AN: 1362350Hom.: 0 Cov.: 54 AF XY: 0.00000149 AC XY: 1AN XY: 671786
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 152028Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74242
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.