rs368825946
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP2PP3
The NM_002739.5(PRKCG):c.1843C>G(p.Arg615Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000212 in 1,414,838 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. R615C) has been classified as Uncertain significance.
Frequency
Consequence
NM_002739.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRKCG | NM_002739.5 | c.1843C>G | p.Arg615Gly | missense_variant | 17/18 | ENST00000263431.4 | |
PRKCG | NM_001316329.2 | c.1843C>G | p.Arg615Gly | missense_variant | 17/19 | ||
PRKCG | XM_047439092.1 | c.1459C>G | p.Arg487Gly | missense_variant | 18/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRKCG | ENST00000263431.4 | c.1843C>G | p.Arg615Gly | missense_variant | 17/18 | 1 | NM_002739.5 | P1 | |
PRKCG | ENST00000682028.1 | c.1843C>G | p.Arg615Gly | missense_variant | 17/19 | ||||
PRKCG | ENST00000683513.1 | c.1735C>G | p.Arg579Gly | missense_variant | 16/17 | ||||
PRKCG | ENST00000682676.1 | n.1244C>G | non_coding_transcript_exon_variant | 9/10 |
Frequencies
GnomAD3 genomes ? Cov.: 29
GnomAD3 exomes AF: 0.00000559 AC: 1AN: 179026Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 95472
GnomAD4 exome AF: 0.00000212 AC: 3AN: 1414838Hom.: 0 Cov.: 31 AF XY: 0.00000286 AC XY: 2AN XY: 699480
GnomAD4 genome ? Cov.: 29
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at