20-49373023-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_004975.4(KCNB1):c.2537G>A(p.Gly846Glu) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,504 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. G846V) has been classified as Uncertain significance.
Frequency
Consequence
NM_004975.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
KCNB1 | NM_004975.4 | c.2537G>A | p.Gly846Glu | missense_variant | Exon 2 of 2 | ENST00000371741.6 | NP_004966.1 | |
KCNB1 | XM_011528799.3 | c.2537G>A | p.Gly846Glu | missense_variant | Exon 3 of 3 | XP_011527101.1 | ||
LOC105372649 | XR_001754659.2 | n.1201+40999C>T | intron_variant | Intron 2 of 3 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461504Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727076
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.