1-241566504-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 3P and 5B. PM2PP3BP4_StrongBP6
The NM_003679.5(KMO):c.701C>T(p.Thr234Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000152 in 1,613,280 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_003679.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000322 AC: 49AN: 152166Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000479 AC: 120AN: 250370Hom.: 0 AF XY: 0.000480 AC XY: 65AN XY: 135336
GnomAD4 exome AF: 0.000133 AC: 195AN: 1460996Hom.: 0 Cov.: 31 AF XY: 0.000139 AC XY: 101AN XY: 726768
GnomAD4 genome AF: 0.000328 AC: 50AN: 152284Hom.: 0 Cov.: 32 AF XY: 0.000430 AC XY: 32AN XY: 74456
ClinVar
Submissions by phenotype
KMO-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at