NM_001099404.2:c.392+34C>A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001099404.2(SCN5A):c.392+34C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0366 in 1,426,582 control chromosomes in the GnomAD database, including 1,136 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001099404.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0457 AC: 6950AN: 152182Hom.: 188 Cov.: 33
GnomAD3 exomes AF: 0.0341 AC: 8484AN: 248620Hom.: 209 AF XY: 0.0350 AC XY: 4729AN XY: 134956
GnomAD4 exome AF: 0.0356 AC: 45310AN: 1274282Hom.: 948 Cov.: 19 AF XY: 0.0362 AC XY: 23324AN XY: 643748
GnomAD4 genome AF: 0.0457 AC: 6955AN: 152300Hom.: 188 Cov.: 33 AF XY: 0.0444 AC XY: 3306AN XY: 74476
ClinVar
Submissions by phenotype
not provided Benign:2
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. -
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not specified Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at