rs797045046
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP2BP4
The NM_000516.7(GNAS):c.34C>G(p.Gln12Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000898 in 1,113,852 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/15 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000516.7 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GNAS | NM_000516.7 | c.34C>G | p.Gln12Glu | missense_variant | 1/13 | ENST00000371085.8 | |
GNAS | NM_016592.5 | c.*43-3852C>G | intron_variant | ENST00000371075.7 | |||
GNAS | NM_080425.4 | c.2069-3852C>G | intron_variant | ENST00000371100.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GNAS | ENST00000371085.8 | c.34C>G | p.Gln12Glu | missense_variant | 1/13 | 1 | NM_000516.7 | ||
GNAS | ENST00000371075.7 | c.*43-3852C>G | intron_variant | 1 | NM_016592.5 | ||||
GNAS | ENST00000371100.9 | c.2069-3852C>G | intron_variant | 5 | NM_080425.4 |
Frequencies
GnomAD3 genomes ? Cov.: 28
GnomAD3 exomes AF: 0.00000502 AC: 1AN: 199320Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 110588
GnomAD4 exome AF: 8.98e-7 AC: 1AN: 1113852Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 551478
GnomAD4 genome ? Cov.: 28
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at