chr12-4810060-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002235.5(KCNA6):āc.19C>Gā(p.Leu7Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_002235.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
KCNA6 | ENST00000280684.4 | c.19C>G | p.Leu7Val | missense_variant | Exon 1 of 1 | 6 | NM_002235.5 | ENSP00000280684.3 | ||
GALNT8 | ENST00000542998.5 | c.310-40678C>G | intron_variant | Intron 3 of 3 | 3 | ENSP00000440383.1 | ||||
ENSG00000256988 | ENST00000662877.1 | n.410-3192G>C | intron_variant | Intron 2 of 2 | ||||||
ENSG00000256988 | ENST00000664363.1 | n.1626+3496G>C | intron_variant | Intron 3 of 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1392726Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 685834
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at