rs769040794
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2_SupportingPP2
The NM_001127222(CACNA1A):c.6203G>C(p.Arg2068Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152220 control chromosomes in the gnomAD Genomes database, with no homozygous occurrence. 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. R2068Q) has been classified as Likely benign.
Frequency
Consequence
NM_001127222 missense
Scores
Clinical Significance
Conservation
Links
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CACNA1A | NM_001127222.2 | c.6203G>C | p.Arg2068Pro | missense_variant | 43/47 | ENST00000360228.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CACNA1A | ENST00000360228.11 | c.6203G>C | p.Arg2068Pro | missense_variant | 43/47 | 1 | NM_001127222.2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152220Hom.: 0 Cov.: 34
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461494Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 727066
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out SpliceAI and Pangolin per-transcript scores at