chr11-118137107-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_174934.4(SCN4B):c.607G>T(p.Val203Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000248 in 1,613,100 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 Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V203M) has been classified as Likely benign.
Frequency
Consequence
NM_174934.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SCN4B | NM_174934.4 | c.607G>T | p.Val203Leu | missense_variant | 5/5 | ENST00000324727.9 | |
SCN4B | NM_001142349.2 | c.277G>T | p.Val93Leu | missense_variant | 4/4 | ||
SCN4B | NM_001142348.2 | c.205G>T | p.Val69Leu | missense_variant | 3/3 | ||
SCN4B | NR_024527.2 | n.596G>T | non_coding_transcript_exon_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SCN4B | ENST00000324727.9 | c.607G>T | p.Val203Leu | missense_variant | 5/5 | 1 | NM_174934.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152170Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251314Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135830
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460812Hom.: 0 Cov.: 30 AF XY: 0.00000413 AC XY: 3AN XY: 726810
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152288Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74464
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at