10-18140707-G-A
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_201596.3(CACNB2):c.-30G>A variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000673 in 1,574,706 control chromosomes in the GnomAD database, including 13 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_201596.3 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000789 AC: 120AN: 152114Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00134 AC: 256AN: 190688Hom.: 4 AF XY: 0.00137 AC XY: 143AN XY: 104420
GnomAD4 exome AF: 0.000661 AC: 940AN: 1422478Hom.: 13 Cov.: 29 AF XY: 0.000688 AC XY: 485AN XY: 705232
GnomAD4 genome AF: 0.000782 AC: 119AN: 152228Hom.: 0 Cov.: 32 AF XY: 0.000887 AC XY: 66AN XY: 74414
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at