rs587778254
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The ENST00000263253.9(EP300):āc.2627A>Gā(p.Gln876Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000479 in 1,461,830 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q876L) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000263253.9 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EP300 | NM_001429.4 | c.2627A>G | p.Gln876Arg | missense_variant | 14/31 | ENST00000263253.9 | NP_001420.2 | |
EP300 | NM_001362843.2 | c.2549A>G | p.Gln850Arg | missense_variant | 13/30 | NP_001349772.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EP300 | ENST00000263253.9 | c.2627A>G | p.Gln876Arg | missense_variant | 14/31 | 1 | NM_001429.4 | ENSP00000263253 | P2 | |
EP300 | ENST00000674155.1 | c.2549A>G | p.Gln850Arg | missense_variant | 13/30 | ENSP00000501078 | A2 | |||
EP300 | ENST00000703544.1 | c.*547A>G | 3_prime_UTR_variant, NMD_transcript_variant | 13/30 | ENSP00000515365 | |||||
EP300 | ENST00000703545.1 | c.*997A>G | 3_prime_UTR_variant, NMD_transcript_variant | 12/17 | ENSP00000515366 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251198Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135792
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461830Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 727212
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at