rs753389706
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004588.5(SCN2B):c.461G>C(p.Arg154Pro) variant causes a missense change. The variant allele was found at a frequency of 0.000000685 in 1,459,906 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R154Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_004588.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SCN2B | NM_004588.5 | c.461G>C | p.Arg154Pro | missense_variant | 4/4 | ENST00000278947.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SCN2B | ENST00000278947.6 | c.461G>C | p.Arg154Pro | missense_variant | 4/4 | 1 | NM_004588.5 | P1 | |
SCN2B | ENST00000669850.1 | n.703G>C | non_coding_transcript_exon_variant | 4/4 | |||||
SCN2B | ENST00000658882.1 | c.*286G>C | 3_prime_UTR_variant, NMD_transcript_variant | 5/5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249106Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134806
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459906Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726362
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at