rs587778258
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001429.4(EP300):c.6413C>G(p.Ala2138Gly) 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 benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001429.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EP300 | NM_001429.4 | c.6413C>G | p.Ala2138Gly | missense_variant | 31/31 | ENST00000263253.9 | NP_001420.2 | |
EP300 | NM_001362843.2 | c.6335C>G | p.Ala2112Gly | missense_variant | 30/30 | NP_001349772.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EP300 | ENST00000263253.9 | c.6413C>G | p.Ala2138Gly | missense_variant | 31/31 | 1 | NM_001429.4 | ENSP00000263253 | P2 | |
ENST00000415054.1 | n.82+4939G>C | intron_variant, non_coding_transcript_variant | 3 | |||||||
EP300-AS1 | ENST00000420537.1 | n.224-3300G>C | intron_variant, non_coding_transcript_variant | 3 | ||||||
EP300 | ENST00000674155.1 | c.6335C>G | p.Ala2112Gly | missense_variant | 30/30 | ENSP00000501078 | A2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
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.