rs778828614
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_017551.3(GRID1):c.2753G>T(p.Arg918Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R918Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_017551.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GRID1 | NM_017551.3 | c.2753G>T | p.Arg918Leu | missense_variant | Exon 16 of 16 | ENST00000327946.12 | NP_060021.1 | |
GRID1 | XM_047425122.1 | c.1466G>T | p.Arg489Leu | missense_variant | Exon 9 of 9 | XP_047281078.1 | ||
GRID1 | XM_047425123.1 | c.1466G>T | p.Arg489Leu | missense_variant | Exon 9 of 9 | XP_047281079.1 | ||
GRID1-AS1 | NR_038986.1 | n.282-2845C>A | intron_variant | Intron 2 of 2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251050Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135766
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at