22-41160716-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001429.4(EP300):c.3665C>G(p.Pro1222Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P1222H) has been classified as Uncertain significance.
Frequency
Consequence
NM_001429.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EP300 | NM_001429.4 | c.3665C>G | p.Pro1222Arg | missense_variant | 20/31 | ENST00000263253.9 | |
EP300 | NM_001362843.2 | c.3587C>G | p.Pro1196Arg | missense_variant | 19/30 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EP300 | ENST00000263253.9 | c.3665C>G | p.Pro1222Arg | missense_variant | 20/31 | 1 | NM_001429.4 | P2 | |
EP300 | ENST00000674155.1 | c.3587C>G | p.Pro1196Arg | missense_variant | 19/30 | A2 | |||
EP300 | ENST00000703544.1 | c.*1585C>G | 3_prime_UTR_variant, NMD_transcript_variant | 19/30 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
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.