chr6-149623146-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_007044.4(KATNA1):c.458G>A(p.Arg153His) variant causes a missense change. The variant allele was found at a frequency of 0.0000827 in 1,608,878 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R153C) has been classified as Uncertain significance.
Frequency
Consequence
NM_007044.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152132Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000852 AC: 21AN: 246432Hom.: 0 AF XY: 0.0000902 AC XY: 12AN XY: 133092
GnomAD4 exome AF: 0.0000810 AC: 118AN: 1456628Hom.: 1 Cov.: 30 AF XY: 0.0000718 AC XY: 52AN XY: 724426
GnomAD4 genome AF: 0.0000985 AC: 15AN: 152250Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74450
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.458G>A (p.R153H) alteration is located in exon 4 (coding exon 3) of the KATNA1 gene. This alteration results from a G to A substitution at nucleotide position 458, causing the arginine (R) at amino acid position 153 to be replaced by a histidine (H). 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