2-23639206-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_052920.2(KLHL29):c.353C>T(p.Thr118Met) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000258 in 1,547,418 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_052920.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000197 AC: 3AN: 152324Hom.: 0 AF XY: 0.0000124 AC XY: 1AN XY: 80824
GnomAD4 exome AF: 0.0000194 AC: 27AN: 1395256Hom.: 0 Cov.: 31 AF XY: 0.0000189 AC XY: 13AN XY: 688080
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.000135 AC XY: 10AN XY: 74330
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.353C>T (p.T118M) alteration is located in exon 4 (coding exon 2) of the KLHL29 gene. This alteration results from a C to T substitution at nucleotide position 353, causing the threonine (T) at amino acid position 118 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at