1-201069611-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 2P and 12B. PM2BP4_StrongBP6_Very_Strong
The NM_000069.3(CACNA1S):c.2361-10G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000522 in 1,551,508 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 Likely benign (★★).
Frequency
Consequence
NM_000069.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000856 AC: 13AN: 151898Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000386 AC: 6AN: 155618Hom.: 0 AF XY: 0.0000488 AC XY: 4AN XY: 81886
GnomAD4 exome AF: 0.0000486 AC: 68AN: 1399490Hom.: 0 Cov.: 34 AF XY: 0.0000493 AC XY: 34AN XY: 690296
GnomAD4 genome AF: 0.0000855 AC: 13AN: 152018Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74298
ClinVar
Submissions by phenotype
Malignant hyperthermia, susceptibility to, 5 Benign:2
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CACNA1S-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Malignant hyperthermia, susceptibility to, 5;C2749982:Thyrotoxic periodic paralysis, susceptibility to, 1;C3714580:Hypokalemic periodic paralysis, type 1 Benign:1
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Hypokalemic periodic paralysis, type 1 Benign:1
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Congenital myopathy 18 Benign:1
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Thyrotoxic periodic paralysis, susceptibility to, 1 Benign:1
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Malignant hyperthermia, susceptibility to, 5;C3714580:Hypokalemic periodic paralysis, type 1 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at