rs200367454
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_201596.3(CACNB2):āc.380C>Gā(p.Ala127Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000684 in 1,461,710 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict 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. A127V) has been classified as Likely benign.
Frequency
Consequence
NM_201596.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CACNB2 | NM_201596.3 | c.380C>G | p.Ala127Gly | missense_variant | 4/14 | ENST00000324631.13 | |
CACNB2 | NM_201590.3 | c.218C>G | p.Ala73Gly | missense_variant | 3/13 | ENST00000377329.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CACNB2 | ENST00000324631.13 | c.380C>G | p.Ala127Gly | missense_variant | 4/14 | 1 | NM_201596.3 | ||
CACNB2 | ENST00000377329.10 | c.218C>G | p.Ala73Gly | missense_variant | 3/13 | 1 | NM_201590.3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251320Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135832
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461710Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 727172
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at