rs1060505000
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP6BS2
The NM_020822.3(KCNT1):āc.2030A>Gā(p.Gln677Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000551 in 1,269,320 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_020822.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000551 AC: 7AN: 1269320Hom.: 0 Cov.: 31 AF XY: 0.0000114 AC XY: 7AN XY: 613670
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
KCNT1: PM2 -
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. -
Inborn genetic diseases Uncertain:1
The p.Q677R variant (also known as c.2030A>G), located in coding exon 19 of the KCNT1 gene, results from an A to G substitution at nucleotide position 2030. The glutamine at codon 677 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. -
Developmental and epileptic encephalopathy, 14;C3554306:Autosomal dominant nocturnal frontal lobe epilepsy 5 Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at