rs710187
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_014291.4(GCAT):c.115C>A(p.Arg39Ser) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R39C) has been classified as Likely benign.
Frequency
Consequence
NM_014291.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GCAT | NM_014291.4 | c.115C>A | p.Arg39Ser | missense_variant | 1/9 | ENST00000248924.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GCAT | ENST00000248924.11 | c.115C>A | p.Arg39Ser | missense_variant | 1/9 | 1 | NM_014291.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 35
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1418416Hom.: 0 Cov.: 45 AF XY: 0.00 AC XY: 0AN XY: 702296
GnomAD4 genome ? Cov.: 35
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at