7-81950491-A-ACAGT
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PVS1_ModeratePM2
The NM_000722.4(CACNA2D1):c.3173_3176dupACTG(p.Cys1059fs) variant causes a frameshift, stop gained change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000722.4 frameshift, stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CACNA2D1 | ENST00000356860.8 | c.3173_3176dupACTG | p.Cys1059fs | frameshift_variant, stop_gained | Exon 39 of 39 | 1 | NM_000722.4 | ENSP00000349320.3 | ||
CACNA2D1 | ENST00000443883.2 | c.3209_3212dupACTG | p.Cys1071fs | frameshift_variant, stop_gained | Exon 39 of 39 | 5 | ENSP00000409374.2 | |||
CACNA2D1 | ENST00000705962.1 | c.3053_3056dupACTG | p.Cys1019fs | frameshift_variant, stop_gained | Exon 38 of 38 | ENSP00000516190.1 | ||||
CACNA2D1 | ENST00000705961.1 | c.2939_2942dupACTG | p.Cys981fs | frameshift_variant, stop_gained | Exon 37 of 37 | ENSP00000516189.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Brugada syndrome Uncertain:1
This sequence change creates a premature translational stop signal (p.Cys1059*) in the CACNA2D1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 33 amino acid(s) of the CACNA2D1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CACNA2D1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.