NM_002739.5:c.391T>A
Variant summary
Our verdict is Pathogenic. The variant received 11 ACMG points: 11P and 0B. PM1PM2PM5PP2PP3_Strong
The NM_002739.5(PRKCG):c.391T>A(p.Cys131Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,634 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. C131Y) has been classified as Uncertain significance.
Frequency
Consequence
NM_002739.5 missense
Scores
Clinical Significance
Conservation
Publications
- spinocerebellar ataxia type 14Inheritance: AD Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: Orphanet, Ambry Genetics, Labcorp Genetics (formerly Invitae)
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ACMG classification
Our verdict: Pathogenic. The variant received 11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PRKCG | NM_002739.5 | c.391T>A | p.Cys131Ser | missense_variant | Exon 4 of 18 | ENST00000263431.4 | NP_002730.1 | |
PRKCG | NM_001316329.2 | c.391T>A | p.Cys131Ser | missense_variant | Exon 4 of 19 | NP_001303258.1 | ||
PRKCG | XM_047439092.1 | c.7T>A | p.Cys3Ser | missense_variant | Exon 5 of 20 | XP_047295048.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD2 exomes AF: 0.00000399 AC: 1AN: 250560 AF XY: 0.00 show subpopulations
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461634Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 727104 show subpopulations ⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5.
Age Distribution
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at