9-137878081-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_000718.4(CACNA1B):c.148G>T(p.Ala50Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000066 in 151,514 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 Uncertain significance (★).
Frequency
Consequence
NM_000718.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CACNA1B | NM_000718.4 | c.148G>T | p.Ala50Ser | missense_variant | Exon 1 of 47 | ENST00000371372.6 | NP_000709.1 | |
CACNA1B | NM_001243812.2 | c.148G>T | p.Ala50Ser | missense_variant | Exon 1 of 47 | NP_001230741.1 | ||
LOC100133077 | NR_121583.1 | n.2692-2401C>A | intron_variant | Intron 2 of 3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CACNA1B | ENST00000371372.6 | c.148G>T | p.Ala50Ser | missense_variant | Exon 1 of 47 | 5 | NM_000718.4 | ENSP00000360423.1 | ||
CACNA1B | ENST00000371357.5 | c.148G>T | p.Ala50Ser | missense_variant | Exon 1 of 46 | 5 | ENSP00000360408.1 | |||
CACNA1B | ENST00000371363.5 | c.148G>T | p.Ala50Ser | missense_variant | Exon 1 of 46 | 5 | ENSP00000360414.1 | |||
CACNA1B | ENST00000277551.6 | c.148G>T | p.Ala50Ser | missense_variant | Exon 1 of 47 | 5 | ENSP00000277551.2 |
Frequencies
GnomAD3 genomes AF: 0.00000660 AC: 1AN: 151514Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000130 AC: 3AN: 231300Hom.: 0 AF XY: 0.00000794 AC XY: 1AN XY: 125898
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 1190304Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 579170
GnomAD4 genome AF: 0.00000660 AC: 1AN: 151514Hom.: 0 Cov.: 34 AF XY: 0.0000135 AC XY: 1AN XY: 73988
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.148G>T (p.A50S) alteration is located in exon 1 (coding exon 1) of the CACNA1B gene. This alteration results from a G to T substitution at nucleotide position 148, causing the alanine (A) at amino acid position 50 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at