rs2960306
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_182982.3(GRK4):c.194G>A(p.Arg65His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000013 in 1,612,578 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R65L) has been classified as Likely benign.
Frequency
Consequence
NM_182982.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GRK4 | NM_182982.3 | c.194G>A | p.Arg65His | missense_variant | 3/16 | ENST00000398052.9 | NP_892027.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GRK4 | ENST00000398052.9 | c.194G>A | p.Arg65His | missense_variant | 3/16 | 1 | NM_182982.3 | ENSP00000381129 | P1 | |
GRK4 | ENST00000345167.10 | c.98G>A | p.Arg33His | missense_variant | 2/15 | 1 | ENSP00000264764 | |||
GRK4 | ENST00000504933.1 | c.194G>A | p.Arg65His | missense_variant | 3/15 | 1 | ENSP00000427445 | |||
GRK4 | ENST00000398051.8 | c.98G>A | p.Arg33His | missense_variant | 2/14 | 1 | ENSP00000381128 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151956Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000478 AC: 12AN: 251300Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135828
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1460504Hom.: 0 Cov.: 31 AF XY: 0.0000151 AC XY: 11AN XY: 726642
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152074Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74310
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at