rs879255707
Variant summary
Our verdict is Pathogenic. Variant got 10 ACMG points: 10P and 0B. PVS1PM2
The ENST00000354534.11(SCN8A):c.4862T>A(p.Leu1621Ter) variant causes a stop gained change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L1621L) has been classified as Likely benign.
Frequency
Consequence
ENST00000354534.11 stop_gained
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Pathogenic. Variant got 10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SCN8A | NM_001330260.2 | c.4862T>A | p.Leu1621Ter | stop_gained | 27/27 | ENST00000627620.5 | NP_001317189.1 | |
SCN8A | NM_014191.4 | c.4862T>A | p.Leu1621Ter | stop_gained | 27/27 | ENST00000354534.11 | NP_055006.1 | |
SCN8A | NM_001177984.3 | c.4739T>A | p.Leu1580Ter | stop_gained | 26/26 | NP_001171455.1 | ||
SCN8A | NM_001369788.1 | c.4739T>A | p.Leu1580Ter | stop_gained | 26/26 | NP_001356717.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SCN8A | ENST00000354534.11 | c.4862T>A | p.Leu1621Ter | stop_gained | 27/27 | 1 | NM_014191.4 | ENSP00000346534 | P4 | |
SCN8A | ENST00000627620.5 | c.4862T>A | p.Leu1621Ter | stop_gained | 27/27 | 5 | NM_001330260.2 | ENSP00000487583 | A1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at