1-202348904-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_002481.4(PPP1R12B):c.53G>A(p.Arg18Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000205 in 1,610,018 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
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: 0.000105 AC: 16AN: 152244Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000292 AC: 7AN: 239646Hom.: 0 AF XY: 0.0000306 AC XY: 4AN XY: 130608
GnomAD4 exome AF: 0.0000117 AC: 17AN: 1457656Hom.: 0 Cov.: 31 AF XY: 0.0000152 AC XY: 11AN XY: 724958
GnomAD4 genome AF: 0.000105 AC: 16AN: 152362Hom.: 0 Cov.: 32 AF XY: 0.0000805 AC XY: 6AN XY: 74504
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.53G>A (p.R18Q) alteration is located in exon 1 (coding exon 1) of the PPP1R12B gene. This alteration results from a G to A substitution at nucleotide position 53, causing the arginine (R) at amino acid position 18 to be replaced by a glutamine (Q). 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