chr4-2988771-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_182982.3(GRK4):c.193C>T(p.Arg65Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000409 in 1,613,010 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GRK4 | NM_182982.3 | c.193C>T | p.Arg65Cys | missense_variant | 3/16 | ENST00000398052.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GRK4 | ENST00000398052.9 | c.193C>T | p.Arg65Cys | missense_variant | 3/16 | 1 | NM_182982.3 | P1 | |
GRK4 | ENST00000345167.10 | c.97C>T | p.Arg33Cys | missense_variant | 2/15 | 1 | |||
GRK4 | ENST00000504933.1 | c.193C>T | p.Arg65Cys | missense_variant | 3/15 | 1 | |||
GRK4 | ENST00000398051.8 | c.97C>T | p.Arg33Cys | missense_variant | 2/14 | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152110Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251434Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135898
GnomAD4 exome AF: 0.0000411 AC: 60AN: 1460900Hom.: 0 Cov.: 28 AF XY: 0.0000427 AC XY: 31AN XY: 726806
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152110Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 18, 2022 | The c.193C>T (p.R65C) alteration is located in exon 3 (coding exon 3) of the GRK4 gene. This alteration results from a C to T substitution at nucleotide position 193, causing the arginine (R) at amino acid position 65 to be replaced by a cysteine (C). 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