chr4-2992276-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_182982.3(GRK4):c.323G>A(p.Arg108Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000207 in 1,451,218 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. R108R) has been classified as Likely benign.
Frequency
Consequence
NM_182982.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GRK4 | NM_182982.3 | c.323G>A | p.Arg108Lys | missense_variant | 4/16 | ENST00000398052.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GRK4 | ENST00000398052.9 | c.323G>A | p.Arg108Lys | missense_variant | 4/16 | 1 | NM_182982.3 | P1 | |
GRK4 | ENST00000345167.10 | c.227G>A | p.Arg76Lys | missense_variant | 3/15 | 1 | |||
GRK4 | ENST00000504933.1 | c.323G>A | p.Arg108Lys | missense_variant | 4/15 | 1 | |||
GRK4 | ENST00000398051.8 | c.227G>A | p.Arg76Lys | missense_variant | 3/14 | 1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000207 AC: 3AN: 1451218Hom.: 0 Cov.: 27 AF XY: 0.00000138 AC XY: 1AN XY: 722660
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 30, 2023 | The c.323G>A (p.R108K) alteration is located in exon 4 (coding exon 4) of the GRK4 gene. This alteration results from a G to A substitution at nucleotide position 323, causing the arginine (R) at amino acid position 108 to be replaced by a lysine (K). 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
Publications
No publications associated with this variant yet.