6-73425331-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_138441.3(CGAS):āc.1465A>Gā(p.Asn489Asp) variant causes a missense change. The variant allele was found at a frequency of 0.000000686 in 1,458,412 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_138441.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CGAS | ENST00000370315.4 | c.1465A>G | p.Asn489Asp | missense_variant | Exon 5 of 5 | 1 | NM_138441.3 | ENSP00000359339.3 | ||
CGAS | ENST00000370318.5 | c.1332+133A>G | intron_variant | Intron 5 of 5 | 1 | ENSP00000359342.1 | ||||
CGAS | ENST00000680833.1 | c.1332+133A>G | intron_variant | Intron 5 of 5 | ENSP00000506638.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1458412Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 725442
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.