rs746285416
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_007325.5(GRIA3):c.64C>A(p.Leu22Ile) variant causes a missense change. The variant allele was found at a frequency of 0.000000913 in 1,095,634 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_007325.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GRIA3 | NM_000828.5 | c.64C>A | p.Leu22Ile | missense_variant | Exon 1 of 16 | ENST00000622768.5 | NP_000819.4 | |
GRIA3 | NM_007325.5 | c.64C>A | p.Leu22Ile | missense_variant | Exon 1 of 16 | ENST00000620443.2 | NP_015564.5 | |
GRIA3 | NM_001256743.2 | c.64C>A | p.Leu22Ile | missense_variant | Exon 1 of 4 | NP_001243672.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GRIA3 | ENST00000620443.2 | c.64C>A | p.Leu22Ile | missense_variant | Exon 1 of 16 | 1 | NM_007325.5 | ENSP00000478489.1 | ||
GRIA3 | ENST00000622768.5 | c.64C>A | p.Leu22Ile | missense_variant | Exon 1 of 16 | 5 | NM_000828.5 | ENSP00000481554.1 |
Frequencies
GnomAD3 genomes Cov.: 21
GnomAD3 exomes AF: 0.00000545 AC: 1AN: 183412Hom.: 0 AF XY: 0.0000147 AC XY: 1AN XY: 67846
GnomAD4 exome AF: 9.13e-7 AC: 1AN: 1095634Hom.: 0 Cov.: 29 AF XY: 0.00000277 AC XY: 1AN XY: 361058
GnomAD4 genome Cov.: 21
ClinVar
Submissions by phenotype
not provided Uncertain:1
This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 22 of the GRIA3 protein (p.Leu22Ile). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with GRIA3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1422170). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at