rs9864
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000372017.4(SNCG):c.329A>T(p.Glu110Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.236 in 1,610,028 control chromosomes in the GnomAD database, including 46,434 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/19 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 nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
ENST00000372017.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SNCG | NM_003087.3 | c.329A>T | p.Glu110Val | missense_variant | 4/5 | ENST00000372017.4 | NP_003078.2 | |
SNCG | NM_001330120.2 | c.381A>T | p.Ter127CysextTer28 | stop_lost | 6/7 | NP_001317049.1 | ||
SNCG | XM_047425681.1 | c.656A>T | p.Glu219Val | missense_variant | 6/7 | XP_047281637.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SNCG | ENST00000372017.4 | c.329A>T | p.Glu110Val | missense_variant | 4/5 | 1 | NM_003087.3 | ENSP00000361087 | P1 |
Frequencies
GnomAD3 genomes AF: 0.220 AC: 33344AN: 151822Hom.: 3815 Cov.: 32
GnomAD3 exomes AF: 0.221 AC: 54619AN: 247426Hom.: 6456 AF XY: 0.227 AC XY: 30387AN XY: 133918
GnomAD4 exome AF: 0.238 AC: 347188AN: 1458088Hom.: 42622 Cov.: 32 AF XY: 0.240 AC XY: 174088AN XY: 725308
GnomAD4 genome AF: 0.219 AC: 33338AN: 151940Hom.: 3812 Cov.: 32 AF XY: 0.217 AC XY: 16138AN XY: 74250
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at