8-1770928-T-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_018941.4(CLN8):c.-123-4T>C variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00132 in 827,392 control chromosomes in the GnomAD database, including 10 homozygotes. 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_018941.4 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CLN8 | NM_018941.4 | c.-123-4T>C | splice_region_variant, intron_variant | Intron 1 of 2 | ENST00000331222.6 | NP_061764.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CLN8 | ENST00000331222.6 | c.-123-4T>C | splice_region_variant, intron_variant | Intron 1 of 2 | 1 | NM_018941.4 | ENSP00000328182.4 | |||
KBTBD11-OT1 | ENST00000635855.1 | n.-123-4T>C | splice_region_variant, intron_variant | Intron 1 of 29 | 5 | ENSP00000489726.1 |
Frequencies
GnomAD3 genomes AF: 0.00460 AC: 700AN: 152158Hom.: 3 Cov.: 32
GnomAD4 exome AF: 0.000581 AC: 392AN: 675116Hom.: 7 Cov.: 9 AF XY: 0.000408 AC XY: 145AN XY: 355154
GnomAD4 genome AF: 0.00460 AC: 701AN: 152276Hom.: 3 Cov.: 32 AF XY: 0.00437 AC XY: 325AN XY: 74454
ClinVar
Submissions by phenotype
not specified Benign:2
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
not provided Benign:2
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Neuronal ceroid lipofuscinosis 8;C1864923:Neuronal ceroid lipofuscinosis 8 northern epilepsy variant Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at