4-3013815-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_182982.3(GRK4):āc.728A>Gā(p.Gln243Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000304 in 1,609,456 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
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 | UniProt |
---|---|---|---|---|---|---|---|
GRK4 | NM_182982.3 | c.728A>G | p.Gln243Arg | missense_variant | 8/16 | ENST00000398052.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GRK4 | ENST00000398052.9 | c.728A>G | p.Gln243Arg | missense_variant | 8/16 | 1 | NM_182982.3 | P1 | |
GRK4 | ENST00000345167.10 | c.632A>G | p.Gln211Arg | missense_variant | 7/15 | 1 | |||
GRK4 | ENST00000504933.1 | c.728A>G | p.Gln243Arg | missense_variant | 8/15 | 1 | |||
GRK4 | ENST00000398051.8 | c.632A>G | p.Gln211Arg | missense_variant | 7/14 | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152216Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000771 AC: 19AN: 246436Hom.: 0 AF XY: 0.0000750 AC XY: 10AN XY: 133250
GnomAD4 exome AF: 0.0000288 AC: 42AN: 1457240Hom.: 0 Cov.: 30 AF XY: 0.0000331 AC XY: 24AN XY: 724874
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152216Hom.: 0 Cov.: 31 AF XY: 0.0000538 AC XY: 4AN XY: 74372
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 19, 2022 | The c.728A>G (p.Q243R) alteration is located in exon 8 (coding exon 8) of the GRK4 gene. This alteration results from a A to G substitution at nucleotide position 728, causing the glutamine (Q) at amino acid position 243 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at