chr2-166058504-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001165963.4(SCN1A):c.383+66T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.173 in 883,288 control chromosomes in the GnomAD database, including 15,466 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001165963.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SCN1A | ENST00000674923.1 | c.383+66T>C | intron_variant | Intron 5 of 28 | NM_001165963.4 | ENSP00000501589.1 | ||||
SCN1A | ENST00000303395.9 | c.383+66T>C | intron_variant | Intron 4 of 27 | 5 | ENSP00000303540.4 | ||||
SCN1A | ENST00000375405.7 | c.383+66T>C | intron_variant | Intron 2 of 25 | 5 | ENSP00000364554.3 | ||||
SCN1A | ENST00000409050.1 | c.383+66T>C | intron_variant | Intron 2 of 25 | 5 | ENSP00000386312.1 |
Frequencies
GnomAD3 genomes AF: 0.189 AC: 28740AN: 151870Hom.: 3116 Cov.: 32
GnomAD4 exome AF: 0.169 AC: 123819AN: 731300Hom.: 12342 AF XY: 0.164 AC XY: 63318AN XY: 386838
GnomAD4 genome AF: 0.189 AC: 28791AN: 151988Hom.: 3124 Cov.: 32 AF XY: 0.193 AC XY: 14369AN XY: 74266
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
This variant is classified as Benign based on local population frequency. This variant was detected in 40% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 37. Only high quality variants are reported. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at