19-13207410-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP2BS2
The NM_001127222.2(CACNA1A):c.7424G>A(p.Gly2475Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000978 in 1,533,266 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G2475V) has been classified as Uncertain significance.
Frequency
Consequence
NM_001127222.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CACNA1A | NM_001127222.2 | c.7424G>A | p.Gly2475Asp | missense_variant | 47/47 | ENST00000360228.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CACNA1A | ENST00000360228.11 | c.7424G>A | p.Gly2475Asp | missense_variant | 47/47 | 1 | NM_001127222.2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000660 AC: 1AN: 151564Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.0000101 AC: 14AN: 1381702Hom.: 0 Cov.: 30 AF XY: 0.0000102 AC XY: 7AN XY: 683564
GnomAD4 genome ? AF: 0.00000660 AC: 1AN: 151564Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74022
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at