17-39175399-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_000723.5(CACNB1):c.1591G>T(p.Gly531Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000479 in 1,461,850 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_000723.5 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 |
---|---|---|---|---|---|---|---|---|
CACNB1 | NM_000723.5 | c.1591G>T | p.Gly531Trp | missense_variant | Exon 14 of 14 | ENST00000394303.8 | NP_000714.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CACNB1 | ENST00000394303.8 | c.1591G>T | p.Gly531Trp | missense_variant | Exon 14 of 14 | 1 | NM_000723.5 | ENSP00000377840.3 | ||
CACNB1 | ENST00000539338.6 | n.3710G>T | non_coding_transcript_exon_variant | Exon 12 of 12 | 1 | |||||
ENSG00000266101 | ENST00000579256.1 | n.274-1805C>A | intron_variant | Intron 1 of 1 | 4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000803 AC: 2AN: 249202Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135282
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461850Hom.: 0 Cov.: 32 AF XY: 0.00000825 AC XY: 6AN XY: 727228
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1591G>T (p.G531W) alteration is located in exon 14 (coding exon 14) of the CACNB1 gene. This alteration results from a G to T substitution at nucleotide position 1591, causing the glycine (G) at amino acid position 531 to be replaced by a tryptophan (W). 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