rs115832790
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 1P and 6B. PP2BP4_StrongBP6_Moderate
The NM_002739.5(PRKCG):c.638G>A(p.Arg213Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00031 in 1,614,078 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. R213R) has been classified as Uncertain significance.
Frequency
Consequence
NM_002739.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRKCG | NM_002739.5 | c.638G>A | p.Arg213Gln | missense_variant | 6/18 | ENST00000263431.4 | |
PRKCG | NM_001316329.2 | c.638G>A | p.Arg213Gln | missense_variant | 6/19 | ||
PRKCG | XM_047439092.1 | c.254G>A | p.Arg85Gln | missense_variant | 7/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRKCG | ENST00000263431.4 | c.638G>A | p.Arg213Gln | missense_variant | 6/18 | 1 | NM_002739.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000539 AC: 82AN: 152100Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000493 AC: 124AN: 251494Hom.: 1 AF XY: 0.000471 AC XY: 64AN XY: 135922
GnomAD4 exome AF: 0.000287 AC: 419AN: 1461860Hom.: 3 Cov.: 55 AF XY: 0.000272 AC XY: 198AN XY: 727224
GnomAD4 genome ? AF: 0.000539 AC: 82AN: 152218Hom.: 0 Cov.: 31 AF XY: 0.000739 AC XY: 55AN XY: 74424
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Athena Diagnostics | Aug 22, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at