chr4-3009659-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_182982.3(GRK4):āc.548C>Gā(p.Thr183Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000236 in 1,613,396 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 (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
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.548C>G | p.Thr183Arg | missense_variant | 7/16 | ENST00000398052.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GRK4 | ENST00000398052.9 | c.548C>G | p.Thr183Arg | missense_variant | 7/16 | 1 | NM_182982.3 | P1 | |
GRK4 | ENST00000345167.10 | c.452C>G | p.Thr151Arg | missense_variant | 6/15 | 1 | |||
GRK4 | ENST00000504933.1 | c.548C>G | p.Thr183Arg | missense_variant | 7/15 | 1 | |||
GRK4 | ENST00000398051.8 | c.452C>G | p.Thr151Arg | missense_variant | 6/14 | 1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152100Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000107 AC: 27AN: 251376Hom.: 0 AF XY: 0.0000883 AC XY: 12AN XY: 135872
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461180Hom.: 0 Cov.: 29 AF XY: 0.0000165 AC XY: 12AN XY: 726916
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152216Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74426
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 29, 2023 | The c.548C>G (p.T183R) alteration is located in exon 7 (coding exon 7) of the GRK4 gene. This alteration results from a C to G substitution at nucleotide position 548, causing the threonine (T) at amino acid position 183 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