rs753366655
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 1P and 5B. PP3BP4BS2
The NM_002708.4(PPP1CA):c.967C>T(p.Arg323Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000161 in 1,613,946 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_002708.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PPP1CA | NM_002708.4 | c.967C>T | p.Arg323Cys | missense_variant | Exon 7 of 7 | ENST00000376745.9 | NP_002699.1 | |
PPP1CA | NM_001008709.2 | c.1000C>T | p.Arg334Cys | missense_variant | Exon 7 of 7 | NP_001008709.1 | ||
PPP1CA | NM_206873.2 | c.835C>T | p.Arg279Cys | missense_variant | Exon 6 of 6 | NP_996756.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152152Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 250576Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135700
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461794Hom.: 0 Cov.: 32 AF XY: 0.0000193 AC XY: 14AN XY: 727198
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152152Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1000C>T (p.R334C) alteration is located in exon 7 (coding exon 7) of the PPP1CA gene. This alteration results from a C to T substitution at nucleotide position 1000, causing the arginine (R) at amino acid position 334 to be replaced by a cysteine (C). 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