NM_002708.4:c.898G>A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_002708.4(PPP1CA):c.898G>A(p.Asp300Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000136 in 1,613,966 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 -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PPP1CA | NM_002708.4 | c.898G>A | p.Asp300Asn | missense_variant | Exon 7 of 7 | ENST00000376745.9 | NP_002699.1 | |
PPP1CA | NM_001008709.2 | c.931G>A | p.Asp311Asn | missense_variant | Exon 7 of 7 | NP_001008709.1 | ||
PPP1CA | NM_206873.2 | c.766G>A | p.Asp256Asn | missense_variant | Exon 6 of 6 | NP_996756.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152160Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250600Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135732
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461806Hom.: 0 Cov.: 32 AF XY: 0.0000124 AC XY: 9AN XY: 727198
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152160Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74314
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.931G>A (p.D311N) alteration is located in exon 7 (coding exon 7) of the PPP1CA gene. This alteration results from a G to A substitution at nucleotide position 931, causing the aspartic acid (D) at amino acid position 311 to be replaced by an asparagine (N). 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