chr22-41166649-A-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PM5PP3_Moderate
The NM_001429.4(EP300):c.3857A>T(p.Asn1286Ile) 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. N1286S) has been classified as Likely pathogenic.
Frequency
Consequence
NM_001429.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EP300 | NM_001429.4 | c.3857A>T | p.Asn1286Ile | missense_variant | 23/31 | ENST00000263253.9 | |
EP300 | NM_001362843.2 | c.3779A>T | p.Asn1260Ile | missense_variant | 22/30 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EP300 | ENST00000263253.9 | c.3857A>T | p.Asn1286Ile | missense_variant | 23/31 | 1 | NM_001429.4 | P2 | |
EP300 | ENST00000674155.1 | c.3779A>T | p.Asn1260Ile | missense_variant | 22/30 | A2 | |||
EP300 | ENST00000635584.1 | n.182A>T | non_coding_transcript_exon_variant | 3/6 | 4 | ||||
EP300 | ENST00000703544.1 | c.*1777A>T | 3_prime_UTR_variant, NMD_transcript_variant | 22/30 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 29
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at