chr10-91630252-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005398.7(PPP1R3C):c.629G>T(p.Gly210Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00033 in 1,614,006 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005398.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PPP1R3C | NM_005398.7 | c.629G>T | p.Gly210Val | missense_variant | 2/2 | ENST00000238994.6 | NP_005389.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PPP1R3C | ENST00000238994.6 | c.629G>T | p.Gly210Val | missense_variant | 2/2 | 1 | NM_005398.7 | ENSP00000238994 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000243 AC: 37AN: 152148Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000251 AC: 63AN: 251386Hom.: 0 AF XY: 0.000287 AC XY: 39AN XY: 135854
GnomAD4 exome AF: 0.000339 AC: 496AN: 1461858Hom.: 0 Cov.: 31 AF XY: 0.000347 AC XY: 252AN XY: 727236
GnomAD4 genome AF: 0.000243 AC: 37AN: 152148Hom.: 0 Cov.: 32 AF XY: 0.000188 AC XY: 14AN XY: 74316
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 27, 2024 | The c.629G>T (p.G210V) alteration is located in exon 1 (coding exon 1) of the PPP1R3C gene. This alteration results from a G to T substitution at nucleotide position 629, causing the glycine (G) at amino acid position 210 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