9-137877982-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_000718.4(CACNA1B):c.49G>A(p.Gly17Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.153 in 1,130,022 control chromosomes in the GnomAD database, including 2,903 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_000718.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CACNA1B | NM_000718.4 | c.49G>A | p.Gly17Ser | missense_variant | Exon 1 of 47 | ENST00000371372.6 | NP_000709.1 | |
CACNA1B | NM_001243812.2 | c.49G>A | p.Gly17Ser | missense_variant | Exon 1 of 47 | NP_001230741.1 | ||
LOC100133077 | NR_121583.1 | n.2692-2302C>T | intron_variant | Intron 2 of 3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CACNA1B | ENST00000371372.6 | c.49G>A | p.Gly17Ser | missense_variant | Exon 1 of 47 | 5 | NM_000718.4 | ENSP00000360423.1 | ||
CACNA1B | ENST00000371357.5 | c.49G>A | p.Gly17Ser | missense_variant | Exon 1 of 46 | 5 | ENSP00000360408.1 | |||
CACNA1B | ENST00000371363.5 | c.49G>A | p.Gly17Ser | missense_variant | Exon 1 of 46 | 5 | ENSP00000360414.1 | |||
CACNA1B | ENST00000277551.6 | c.49G>A | p.Gly17Ser | missense_variant | Exon 1 of 47 | 5 | ENSP00000277551.2 |
Frequencies
GnomAD3 genomes AF: 0.134 AC: 19969AN: 148528Hom.: 732 Cov.: 33
GnomAD3 exomes AF: 0.120 AC: 1260AN: 10516Hom.: 0 AF XY: 0.119 AC XY: 626AN XY: 5240
GnomAD4 exome AF: 0.156 AC: 152903AN: 981384Hom.: 2175 Cov.: 29 AF XY: 0.157 AC XY: 72604AN XY: 463456
GnomAD4 genome AF: 0.134 AC: 19966AN: 148638Hom.: 728 Cov.: 33 AF XY: 0.134 AC XY: 9720AN XY: 72486
ClinVar
Submissions by phenotype
not provided Benign:2
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CACNA1B-related disorder Benign:1
This variant is classified as 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