1-201039727-A-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 2P and 10B. PM2BP4_StrongBP6_ModerateBS1
The NM_000069.3(CACNA1S):c.*104T>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000486 in 1,498,418 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 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000381 AC: 58AN: 152224Hom.: 0 Cov.: 34
GnomAD4 exome AF: 0.000498 AC: 670AN: 1346076Hom.: 0 Cov.: 21 AF XY: 0.000460 AC XY: 310AN XY: 674476
GnomAD4 genome AF: 0.000381 AC: 58AN: 152342Hom.: 0 Cov.: 34 AF XY: 0.000362 AC XY: 27AN XY: 74496
ClinVar
Submissions by phenotype
Hypokalemic periodic paralysis, type 1 Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at