NM_005444.3:c.136C>G
Variant summary
Our verdict is Likely pathogenic. Variant got 7 ACMG points: 7P and 0B. PM1PM2PP3PP5_Moderate
The NM_005444.3(CNOT9):c.136C>G(p.Arg46Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely pathogenic (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R46Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_005444.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CNOT9 | NM_005444.3 | c.136C>G | p.Arg46Gly | missense_variant | Exon 2 of 8 | ENST00000273064.11 | NP_005435.1 | |
CNOT9 | NM_001271634.2 | c.136C>G | p.Arg46Gly | missense_variant | Exon 2 of 9 | NP_001258563.1 | ||
CNOT9 | NM_001271635.2 | c.136C>G | p.Arg46Gly | missense_variant | Exon 2 of 8 | NP_001258564.1 | ||
CNOT9 | NR_073390.2 | n.252C>G | non_coding_transcript_exon_variant | Exon 2 of 7 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
CNOT9-associated neurodevelopmental disorder Pathogenic:1
PS2_MOD, PM1, PM2_SUP, PP2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.