rs2306180
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_021957.4(GYS2):c.1087A>T(p.Met363Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict 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. M363V) has been classified as Benign.
Frequency
Consequence
NM_021957.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GYS2 | NM_021957.4 | c.1087A>T | p.Met363Leu | missense_variant | 8/16 | ENST00000261195.3 | |
GYS2 | XM_024448960.2 | c.1087A>T | p.Met363Leu | missense_variant | 8/17 | ||
GYS2 | XM_006719063.4 | c.856A>T | p.Met286Leu | missense_variant | 7/15 | ||
GYS2 | XM_017019245.3 | c.1087A>T | p.Met363Leu | missense_variant | 8/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GYS2 | ENST00000261195.3 | c.1087A>T | p.Met363Leu | missense_variant | 8/16 | 1 | NM_021957.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1424634Hom.: 0 Cov.: 27 AF XY: 0.00 AC XY: 0AN XY: 711148
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at