rs765240974
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_014191.4(SCN8A):c.1999-4A>G variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000952 in 1,261,076 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_014191.4 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SCN8A | NM_001330260.2 | c.1999-4A>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000627620.5 | |||
SCN8A | NM_014191.4 | c.1999-4A>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000354534.11 | |||
SCN8A | NM_001177984.3 | c.1999-4A>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ||||
SCN8A | NM_001369788.1 | c.1999-4A>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SCN8A | ENST00000354534.11 | c.1999-4A>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_014191.4 | P4 | |||
SCN8A | ENST00000627620.5 | c.1999-4A>G | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 5 | NM_001330260.2 | A1 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome AF: 0.00000952 AC: 12AN: 1261076Hom.: 0 Cov.: 33 AF XY: 0.00000806 AC XY: 5AN XY: 620466
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
Early infantile epileptic encephalopathy with suppression bursts Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Oct 01, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at