NM_002708.4:c.718G>A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4BS2
The NM_002708.4(PPP1CA):c.718G>A(p.Asp240Asn) variant causes a missense change. The variant allele was found at a frequency of 0.00000342 in 1,461,066 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 -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PPP1CA | NM_002708.4 | c.718G>A | p.Asp240Asn | missense_variant | Exon 5 of 7 | ENST00000376745.9 | NP_002699.1 | |
PPP1CA | NM_001008709.2 | c.751G>A | p.Asp251Asn | missense_variant | Exon 5 of 7 | NP_001008709.1 | ||
PPP1CA | NM_206873.2 | c.586G>A | p.Asp196Asn | missense_variant | Exon 4 of 6 | NP_996756.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250326Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135478
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461066Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 726816
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.751G>A (p.D251N) alteration is located in exon 5 (coding exon 5) of the PPP1CA gene. This alteration results from a G to A substitution at nucleotide position 751, causing the aspartic acid (D) at amino acid position 251 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