10-86960094-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003087.3(SNCG):āc.257A>Gā(p.Glu86Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000049 in 1,612,998 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_003087.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SNCG | NM_003087.3 | c.257A>G | p.Glu86Gly | missense_variant | Exon 3 of 5 | ENST00000372017.4 | NP_003078.2 | |
SNCG | XM_047425681.1 | c.584A>G | p.Glu195Gly | missense_variant | Exon 5 of 7 | XP_047281637.1 | ||
SNCG | NM_001330120.2 | c.309A>G | p.Gly103Gly | synonymous_variant | Exon 5 of 7 | NP_001317049.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000461 AC: 7AN: 151884Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000642 AC: 16AN: 249406Hom.: 0 AF XY: 0.0000518 AC XY: 7AN XY: 135086
GnomAD4 exome AF: 0.0000493 AC: 72AN: 1461114Hom.: 1 Cov.: 33 AF XY: 0.0000440 AC XY: 32AN XY: 726892
GnomAD4 genome AF: 0.0000461 AC: 7AN: 151884Hom.: 0 Cov.: 33 AF XY: 0.0000674 AC XY: 5AN XY: 74148
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.257A>G (p.E86G) alteration is located in exon 3 (coding exon 3) of the SNCG gene. This alteration results from a A to G substitution at nucleotide position 257, causing the glutamic acid (E) at amino acid position 86 to be replaced by a glycine (G). 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