rs764786977
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_003036.4(SKI):āc.1619C>Gā(p.Ala540Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000142 in 1,408,200 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign 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. A540V) has been classified as Likely benign.
Frequency
Consequence
NM_003036.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SKI | NM_003036.4 | c.1619C>G | p.Ala540Gly | missense_variant | 5/7 | ENST00000378536.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SKI | ENST00000378536.5 | c.1619C>G | p.Ala540Gly | missense_variant | 5/7 | 1 | NM_003036.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000594 AC: 1AN: 168448Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 89850
GnomAD4 exome AF: 0.00000142 AC: 2AN: 1408200Hom.: 0 Cov.: 34 AF XY: 0.00000144 AC XY: 1AN XY: 696000
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at