1-2303077-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_003036.4(SKI):āc.1069C>Gā(p.Arg357Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000274 in 1,461,204 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R357Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_003036.4 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SKI | NM_003036.4 | c.1069C>G | p.Arg357Gly | missense_variant | 2/7 | ENST00000378536.5 | NP_003027.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SKI | ENST00000378536.5 | c.1069C>G | p.Arg357Gly | missense_variant | 2/7 | 1 | NM_003036.4 | ENSP00000367797.4 | ||
SKI | ENST00000478223.2 | n.176C>G | non_coding_transcript_exon_variant | 2/3 | 3 | |||||
SKI | ENST00000704337.1 | n.237C>G | non_coding_transcript_exon_variant | 2/4 | ||||||
SKI | ENST00000508416.1 | n.*39C>G | downstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 251070Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135830
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461204Hom.: 0 Cov.: 32 AF XY: 0.00000413 AC XY: 3AN XY: 726902
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at