rs764839814
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_ModerateBP6_Moderate
The NM_001127222.2(CACNA1A):c.2133C>T(p.Ile711=) variant causes a synonymous change. The variant allele was found at a frequency of 0.00000807 in 1,610,972 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. I711I) has been classified as Uncertain significance.
Frequency
Consequence
NM_001127222.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CACNA1A | NM_001127222.2 | c.2133C>T | p.Ile711= | synonymous_variant | 17/47 | ENST00000360228.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CACNA1A | ENST00000360228.11 | c.2133C>T | p.Ile711= | synonymous_variant | 17/47 | 1 | NM_001127222.2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000198 AC: 3AN: 151874Hom.: 0 Cov.: 29
GnomAD3 exomes AF: 0.0000123 AC: 3AN: 244552Hom.: 0 AF XY: 0.0000151 AC XY: 2AN XY: 132634
GnomAD4 exome AF: 0.00000685 AC: 10AN: 1459098Hom.: 1 Cov.: 32 AF XY: 0.00000689 AC XY: 5AN XY: 725572
GnomAD4 genome ? AF: 0.0000198 AC: 3AN: 151874Hom.: 0 Cov.: 29 AF XY: 0.0000270 AC XY: 2AN XY: 74156
ClinVar
Submissions by phenotype
Episodic ataxia type 2;C4310716:Developmental and epileptic encephalopathy, 42 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Oct 05, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at