1-202425655-G-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_002481.4(PPP1R12B):āc.631G>Cā(p.Val211Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000105 in 1,613,872 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 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 Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152224Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251136Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135718
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461648Hom.: 0 Cov.: 30 AF XY: 0.00000550 AC XY: 4AN XY: 727140
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152224Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74378
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.631G>C (p.V211L) alteration is located in exon 4 (coding exon 4) of the PPP1R12B gene. This alteration results from a G to C substitution at nucleotide position 631, causing the valine (V) at amino acid position 211 to be replaced by a leucine (L). 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