19-48873985-G-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_014330.5(PPP1R15A):āc.752G>Cā(p.Arg251Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.172 in 1,613,804 control chromosomes in the GnomAD database, including 35,810 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 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 nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_014330.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.297 AC: 45187AN: 151916Hom.: 10751 Cov.: 32
GnomAD3 exomes AF: 0.202 AC: 50833AN: 251148Hom.: 7450 AF XY: 0.195 AC XY: 26426AN XY: 135812
GnomAD4 exome AF: 0.159 AC: 232924AN: 1461770Hom.: 25017 Cov.: 37 AF XY: 0.161 AC XY: 116847AN XY: 727176
GnomAD4 genome AF: 0.298 AC: 45291AN: 152034Hom.: 10793 Cov.: 32 AF XY: 0.297 AC XY: 22115AN XY: 74340
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at