6-30553360-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_005275.5(GNL1):c.798C>G(p.Asp266Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 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_005275.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GNL1 | NM_005275.5 | c.798C>G | p.Asp266Glu | missense_variant | Exon 6 of 12 | ENST00000376621.8 | NP_005266.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GNL1 | ENST00000376621.8 | c.798C>G | p.Asp266Glu | missense_variant | Exon 6 of 12 | 1 | NM_005275.5 | ENSP00000365806.3 | ||
GNL1 | ENST00000433809.1 | c.792C>G | p.Asp264Glu | missense_variant, splice_region_variant | Exon 5 of 5 | 2 | ENSP00000404728.1 | |||
GNL1 | ENST00000487166.1 | n.-240C>G | upstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 37
GnomAD4 genome Cov.: 31
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.