rs767098711
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_002711.4(PPP1R3A):c.1824C>T(p.Ser608=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000143 in 1,613,440 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_002711.4 synonymous
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PPP1R3A | NM_002711.4 | c.1824C>T | p.Ser608= | synonymous_variant | 4/4 | ENST00000284601.4 | |
PPP1R3A | XM_005250473.4 | c.1221C>T | p.Ser407= | synonymous_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PPP1R3A | ENST00000284601.4 | c.1824C>T | p.Ser608= | synonymous_variant | 4/4 | 1 | NM_002711.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 151914Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 250648Hom.: 1 AF XY: 0.0000222 AC XY: 3AN XY: 135420
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1461526Hom.: 1 Cov.: 71 AF XY: 0.00000963 AC XY: 7AN XY: 727072
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 151914Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74180
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at