10-86960116-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001330120.2(SNCG):āc.331G>Cā(p.Gly111Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 152,048 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/15 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001330120.2 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SNCG | NM_003087.3 | c.279G>C | p.Gly93Gly | synonymous_variant | Exon 3 of 5 | ENST00000372017.4 | NP_003078.2 | |
SNCG | NM_001330120.2 | c.331G>C | p.Gly111Arg | missense_variant | Exon 5 of 7 | NP_001317049.1 | ||
SNCG | XM_047425681.1 | c.606G>C | p.Gly202Gly | synonymous_variant | Exon 5 of 7 | XP_047281637.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152048Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248352Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134596
GnomAD4 exome Cov.: 33
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152048Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74256
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at