chr10-18539563-C-G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_201596.3(CACNB2):āc.1822C>Gā(p.Arg608Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000992 in 1,613,652 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign 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. R608C) has been classified as Uncertain significance.
Frequency
Consequence
NM_201596.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CACNB2 | ENST00000324631.13 | c.1822C>G | p.Arg608Gly | missense_variant | Exon 14 of 14 | 1 | NM_201596.3 | ENSP00000320025.8 | ||
CACNB2 | ENST00000377329.10 | c.1660C>G | p.Arg554Gly | missense_variant | Exon 13 of 13 | 1 | NM_201590.3 | ENSP00000366546.4 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151796Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251264Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135792
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461856Hom.: 0 Cov.: 35 AF XY: 0.00000825 AC XY: 6AN XY: 727226
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151796Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 74100
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at