17-50561605-A-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BS1_SupportingBS2
The NM_018896.5(CACNA1G):c.146A>T(p.Glu49Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000662 in 1,586,416 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_018896.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CACNA1G | ENST00000359106.10 | c.146A>T | p.Glu49Val | missense_variant | Exon 1 of 38 | 1 | NM_018896.5 | ENSP00000352011.5 | ||
CACNA1G | ENST00000507510.6 | c.146A>T | p.Glu49Val | missense_variant | Exon 1 of 37 | 1 | ENSP00000423112.2 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151774Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000103 AC: 2AN: 194902Hom.: 0 AF XY: 0.00000926 AC XY: 1AN XY: 107938
GnomAD4 exome AF: 0.0000718 AC: 103AN: 1434642Hom.: 0 Cov.: 32 AF XY: 0.0000492 AC XY: 35AN XY: 711280
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151774Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74146
ClinVar
Submissions by phenotype
not provided Uncertain:1
CACNA1G: PP2, PP3 -
CACNA1G-related disorder Uncertain:1
The CACNA1G c.146A>T variant is predicted to result in the amino acid substitution p.Glu49Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0024% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-48638966-A-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at