22-41149155-G-A
Variant summary
Our verdict is Benign. The variant received -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_001429.4(EP300):c.2359G>A(p.Gly787Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000131 in 1,613,792 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 17/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001429.4 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 151792Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.000302 AC: 76AN: 251476 AF XY: 0.000375 show subpopulations
GnomAD4 exome AF: 0.000134 AC: 196AN: 1461882Hom.: 3 Cov.: 35 AF XY: 0.000199 AC XY: 145AN XY: 727240 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.000105 AC: 16AN: 151910Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74220 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
not specified Benign:1
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Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at