20-58834449-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000601795.1(ENSG00000268333):n.513G>A variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.417 in 149,144 control chromosomes in the GnomAD database, including 14,230 homozygotes. 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
ENST00000601795.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GNAS-AS1 | ENST00000424094.6 | n.819+7488G>A | intron_variant | Intron 4 of 4 | 1 | |||||
ENSG00000268333 | ENST00000601795.1 | n.513G>A | non_coding_transcript_exon_variant | Exon 2 of 2 | 3 | |||||
GNAS-AS1 | ENST00000443966.2 | n.2120+4276G>A | intron_variant | Intron 1 of 1 | 5 |
Frequencies
GnomAD3 genomes AF: 0.417 AC: 62086AN: 148938Hom.: 14213 Cov.: 31
GnomAD4 exome AF: 0.714 AC: 60AN: 84Hom.: 23 Cov.: 0 AF XY: 0.697 AC XY: 46AN XY: 66
GnomAD4 genome AF: 0.417 AC: 62091AN: 149060Hom.: 14207 Cov.: 31 AF XY: 0.423 AC XY: 30775AN XY: 72832
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at