rs41297895
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_014619.5(GRIK4):c.500C>A(p.Ala167Asp) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 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. A167G) has been classified as Benign.
Frequency
Consequence
NM_014619.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GRIK4 | NM_014619.5 | c.500C>A | p.Ala167Asp | missense_variant | Exon 6 of 21 | ENST00000527524.8 | NP_055434.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GRIK4 | ENST00000527524.8 | c.500C>A | p.Ala167Asp | missense_variant | Exon 6 of 21 | 2 | NM_014619.5 | ENSP00000435648.2 | ||
GRIK4 | ENST00000438375.2 | c.500C>A | p.Ala167Asp | missense_variant | Exon 5 of 20 | 1 | ENSP00000404063.2 | |||
GRIK4 | ENST00000533291.5 | n.898C>A | non_coding_transcript_exon_variant | Exon 6 of 18 | 1 | |||||
GRIK4 | ENST00000638419.1 | c.500C>A | p.Ala167Asp | missense_variant | Exon 6 of 21 | 5 | ENSP00000492086.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at