rs775276054
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 2P and 10B. PM2BP4_StrongBP6BP7BS2
The NM_000718.4(CACNA1B):c.108G>A(p.Gly36Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000332 in 150,598 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars). Synonymous variant affecting the same amino acid position (i.e. G36G) has been classified as Likely benign.
Frequency
Consequence
NM_000718.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CACNA1B | NM_000718.4 | c.108G>A | p.Gly36Gly | synonymous_variant | Exon 1 of 47 | ENST00000371372.6 | NP_000709.1 | |
CACNA1B | NM_001243812.2 | c.108G>A | p.Gly36Gly | synonymous_variant | Exon 1 of 47 | NP_001230741.1 | ||
LOC100133077 | NR_121583.1 | n.2692-2361C>T | intron_variant | Intron 2 of 3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CACNA1B | ENST00000371372.6 | c.108G>A | p.Gly36Gly | synonymous_variant | Exon 1 of 47 | 5 | NM_000718.4 | ENSP00000360423.1 | ||
CACNA1B | ENST00000371357.5 | c.108G>A | p.Gly36Gly | synonymous_variant | Exon 1 of 46 | 5 | ENSP00000360408.1 | |||
CACNA1B | ENST00000371363.5 | c.108G>A | p.Gly36Gly | synonymous_variant | Exon 1 of 46 | 5 | ENSP00000360414.1 | |||
CACNA1B | ENST00000277551.6 | c.108G>A | p.Gly36Gly | synonymous_variant | Exon 1 of 47 | 5 | ENSP00000277551.2 |
Frequencies
GnomAD3 genomes AF: 0.0000332 AC: 5AN: 150598Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000368 AC: 4AN: 108714Hom.: 0 AF XY: 0.0000330 AC XY: 2AN XY: 60636
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000535 AC: 61AN: 1140226Hom.: 0 Cov.: 33 AF XY: 0.0000417 AC XY: 23AN XY: 550976
GnomAD4 genome AF: 0.0000332 AC: 5AN: 150598Hom.: 0 Cov.: 34 AF XY: 0.0000545 AC XY: 4AN XY: 73442
ClinVar
Submissions by phenotype
CACNA1B-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at