rs762981322
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 5P and 1B. PM2PM5PP2BP4
The NM_001099404.2(SCN5A):c.6046G>C(p.Val2016Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000146 in 1,368,790 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V2016M) has been classified as Uncertain significance.
Frequency
Consequence
NM_001099404.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SCN5A | NM_001099404.2 | c.6046G>C | p.Val2016Leu | missense_variant | 28/28 | ENST00000413689.6 | |
SCN5A | NM_000335.5 | c.6043G>C | p.Val2015Leu | missense_variant | 28/28 | ENST00000423572.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SCN5A | ENST00000413689.6 | c.6046G>C | p.Val2016Leu | missense_variant | 28/28 | 5 | NM_001099404.2 | P4 | |
SCN5A | ENST00000423572.7 | c.6043G>C | p.Val2015Leu | missense_variant | 28/28 | 1 | NM_000335.5 | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000550 AC: 1AN: 181798Hom.: 0 AF XY: 0.0000104 AC XY: 1AN XY: 96002
GnomAD4 exome AF: 0.00000146 AC: 2AN: 1368790Hom.: 0 Cov.: 31 AF XY: 0.00000149 AC XY: 1AN XY: 669926
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at