chr1-35893682-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_012199.5(AGO1):c.521C>T(p.Pro174Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012199.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AGO1 | NM_012199.5 | c.521C>T | p.Pro174Leu | missense_variant | Exon 5 of 19 | ENST00000373204.6 | NP_036331.1 | |
AGO1 | NM_001317122.2 | c.521C>T | p.Pro174Leu | missense_variant | Exon 5 of 19 | NP_001304051.1 | ||
AGO1 | NM_001317123.2 | c.296C>T | p.Pro99Leu | missense_variant | Exon 5 of 19 | NP_001304052.1 | ||
AGO1 | XM_011541236.3 | c.521C>T | p.Pro174Leu | missense_variant | Exon 5 of 19 | XP_011539538.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.