10-86958727-C-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_003087.3(SNCG):c.30C>T(p.Ile10Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000112 in 1,613,940 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_003087.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SNCG | NM_003087.3 | c.30C>T | p.Ile10Ile | synonymous_variant | Exon 1 of 5 | ENST00000372017.4 | NP_003078.2 | |
SNCG | NM_001330120.2 | c.30C>T | p.Ile10Ile | synonymous_variant | Exon 3 of 7 | NP_001317049.1 | ||
SNCG | XM_047425681.1 | c.357C>T | p.Ile119Ile | synonymous_variant | Exon 3 of 7 | XP_047281637.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152202Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 250896Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135700
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461738Hom.: 0 Cov.: 34 AF XY: 0.00000963 AC XY: 7AN XY: 727168
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152202Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74348
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at