rs779800178
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003087.3(SNCG):c.349G>C(p.Glu117Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000149 in 1,612,452 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003087.3 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.349G>C | p.Glu117Gln | missense_variant | Exon 4 of 5 | ENST00000372017.4 | NP_003078.2 | |
SNCG | XM_047425681.1 | c.676G>C | p.Glu226Gln | missense_variant | Exon 6 of 7 | XP_047281637.1 | ||
SNCG | NM_001330120.2 | c.*20G>C | 3_prime_UTR_variant | Exon 6 of 7 | NP_001317049.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152100Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1460352Hom.: 0 Cov.: 31 AF XY: 0.00000964 AC XY: 7AN XY: 726390
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152100Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74292
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.349G>C (p.E117Q) alteration is located in exon 4 (coding exon 4) of the SNCG gene. This alteration results from a G to C substitution at nucleotide position 349, causing the glutamic acid (E) at amino acid position 117 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at