3-58397638-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_017771.5(PXK):c.1018C>T(p.His340Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.0000378 in 1,613,976 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017771.5 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: 0.0000394 AC: 6AN: 152128Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000477 AC: 12AN: 251414Hom.: 0 AF XY: 0.0000662 AC XY: 9AN XY: 135874
GnomAD4 exome AF: 0.0000376 AC: 55AN: 1461848Hom.: 0 Cov.: 31 AF XY: 0.0000344 AC XY: 25AN XY: 727232
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152128Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74304
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1018C>T (p.H340Y) alteration is located in exon 11 (coding exon 11) of the PXK gene. This alteration results from a C to T substitution at nucleotide position 1018, causing the histidine (H) at amino acid position 340 to be replaced by a tyrosine (Y). 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