chr11-67398771-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002708.4(PPP1CA):āc.833A>Gā(p.Asn278Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,658 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_002708.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PPP1CA | NM_002708.4 | c.833A>G | p.Asn278Ser | missense_variant | Exon 6 of 7 | ENST00000376745.9 | NP_002699.1 | |
PPP1CA | NM_001008709.2 | c.866A>G | p.Asn289Ser | missense_variant | Exon 6 of 7 | NP_001008709.1 | ||
PPP1CA | NM_206873.2 | c.701A>G | p.Asn234Ser | missense_variant | Exon 5 of 6 | NP_996756.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461658Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727116
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.866A>G (p.N289S) alteration is located in exon 6 (coding exon 6) of the PPP1CA gene. This alteration results from a A to G substitution at nucleotide position 866, causing the asparagine (N) at amino acid position 289 to be replaced by a serine (S). 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