1-202425602-A-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_002481.4(PPP1R12B):āc.578A>Gā(p.Gln193Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000663 in 1,613,896 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_002481.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152238Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000557 AC: 14AN: 251140Hom.: 0 AF XY: 0.0000810 AC XY: 11AN XY: 135722
GnomAD4 exome AF: 0.0000609 AC: 89AN: 1461658Hom.: 0 Cov.: 30 AF XY: 0.0000701 AC XY: 51AN XY: 727140
GnomAD4 genome AF: 0.000118 AC: 18AN: 152238Hom.: 0 Cov.: 32 AF XY: 0.000134 AC XY: 10AN XY: 74378
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.578A>G (p.Q193R) alteration is located in exon 4 (coding exon 4) of the PPP1R12B gene. This alteration results from a A to G substitution at nucleotide position 578, causing the glutamine (Q) at amino acid position 193 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at