chr20-49373024-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_004975.4(KCNB1):c.2536G>A(p.Gly846Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,528 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 nucleotide change resulting in the same amino acid substitution has been previously reported as Uncertain significance in 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.2536G>A | p.Gly846Arg | missense_variant | Exon 2 of 2 | ENST00000371741.6 | NP_004966.1 | |
KCNB1 | XM_011528799.3 | c.2536G>A | p.Gly846Arg | missense_variant | Exon 3 of 3 | XP_011527101.1 | ||
LOC105372649 | XR_001754659.2 | n.1201+41000C>T | intron_variant | Intron 2 of 3 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461528Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727078
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at