NM_005275.5:c.798C>T
Variant summary
Our verdict is Benign. The variant received -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_005275.5(GNL1):c.798C>T(p.Asp266Asp) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.667 in 1,609,648 control chromosomes in the GnomAD database, including 360,056 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
NM_005275.5 synonymous
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GNL1 | NM_005275.5 | c.798C>T | p.Asp266Asp | synonymous_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>T | p.Asp266Asp | synonymous_variant | Exon 6 of 12 | 1 | NM_005275.5 | ENSP00000365806.3 | ||
GNL1 | ENST00000433809.1 | c.792C>T | p.Asp264Asp | splice_region_variant, synonymous_variant | Exon 5 of 5 | 2 | ENSP00000404728.1 | |||
GNL1 | ENST00000487166.1 | n.-240C>T | upstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.661 AC: 100331AN: 151806Hom.: 33240 Cov.: 31 show subpopulations
GnomAD2 exomes AF: 0.667 AC: 164730AN: 246998 AF XY: 0.675 show subpopulations
GnomAD4 exome AF: 0.668 AC: 973671AN: 1457724Hom.: 326784 Cov.: 37 AF XY: 0.672 AC XY: 487548AN XY: 725286 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.661 AC: 100406AN: 151924Hom.: 33272 Cov.: 31 AF XY: 0.660 AC XY: 49017AN XY: 74260 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at