NM_014811.5:c.122C>T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014811.5(PPP1R26):c.122C>T(p.Ala41Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000248 in 1,611,580 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A41P) has been classified as Uncertain significance.
Frequency
Consequence
NM_014811.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152182Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000121 AC: 3AN: 248700Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135066
GnomAD4 exome AF: 0.0000233 AC: 34AN: 1459280Hom.: 0 Cov.: 30 AF XY: 0.0000220 AC XY: 16AN XY: 725976
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152300Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74456
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.122C>T (p.A41V) alteration is located in exon 4 (coding exon 1) of the PPP1R26 gene. This alteration results from a C to T substitution at nucleotide position 122, causing the alanine (A) at amino acid position 41 to be replaced by a valine (V). 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