16-56192319-C-T
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 2P and 9B. PM2BP4_ModerateBP6_ModerateBP7BS2
The NM_020988.3(GNAO1):c.84C>T(p.Ile28Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000343 in 1,457,264 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_020988.3 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GNAO1 | NM_020988.3 | c.84C>T | p.Ile28Ile | synonymous_variant | Exon 1 of 9 | ENST00000262493.12 | NP_066268.1 | |
GNAO1 | NM_138736.3 | c.84C>T | p.Ile28Ile | synonymous_variant | Exon 1 of 8 | NP_620073.2 | ||
GNAO1 | XR_007064866.1 | n.831C>T | non_coding_transcript_exon_variant | Exon 1 of 9 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1AN: 152090Hom.: 0 Cov.: 31 FAILED QC
GnomAD4 exome AF: 0.00000343 AC: 5AN: 1457264Hom.: 0 Cov.: 29 AF XY: 0.00000552 AC XY: 4AN XY: 725194
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000657 AC: 1AN: 152204Hom.: 0 Cov.: 31 AF XY: 0.0000134 AC XY: 1AN XY: 74416
ClinVar
Submissions by phenotype
Early infantile epileptic encephalopathy with suppression bursts Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.