NM_001429.4:c.7245G>C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4
The NM_001429.4(EP300):c.7245G>C(p.Ter2415Tyrext*?) variant causes a stop lost 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. *2415*) has been classified as Likely benign.
Frequency
Consequence
NM_001429.4 stop_lost
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EP300 | ENST00000263253.9 | c.7245G>C | p.Ter2415Tyrext*? | stop_lost | Exon 31 of 31 | 1 | NM_001429.4 | ENSP00000263253.7 | ||
EP300 | ENST00000674155.1 | c.7167G>C | p.Ter2389Tyrext*? | stop_lost | Exon 30 of 30 | ENSP00000501078.1 | ||||
ENSG00000232754 | ENST00000415054.1 | n.82+4107C>G | intron_variant | Intron 1 of 2 | 3 | |||||
EP300-AS1 | ENST00000420537.1 | n.224-4132C>G | intron_variant | Intron 2 of 2 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
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.