chr10-6430929-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PP2PP3_Moderate
The NM_006257.5(PRKCQ):c.1846C>G(p.Arg616Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,630 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.
Frequency
Consequence
NM_006257.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRKCQ | NM_006257.5 | c.1846C>G | p.Arg616Gly | missense_variant | 17/18 | ENST00000263125.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRKCQ | ENST00000263125.10 | c.1846C>G | p.Arg616Gly | missense_variant | 17/18 | 1 | NM_006257.5 | P1 | |
PRKCQ | ENST00000397176.6 | c.1657C>G | p.Arg553Gly | missense_variant | 16/17 | 5 | |||
PRKCQ | ENST00000539722.5 | c.1471C>G | p.Arg491Gly | missense_variant | 16/17 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250646Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135472
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461630Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 727120
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at