chrX-3655393-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_005044.5(PRKX):c.355G>A(p.Glu119Lys) variant causes a missense change. The variant allele was found at a frequency of 0.000207 in 1,210,875 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 84 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005044.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PRKX | NM_005044.5 | c.355G>A | p.Glu119Lys | missense_variant | Exon 3 of 9 | ENST00000262848.6 | NP_005035.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 17AN: 112670Hom.: 0 Cov.: 23 AF XY: 0.000115 AC XY: 4AN XY: 34822
GnomAD3 exomes AF: 0.000209 AC: 38AN: 182104Hom.: 0 AF XY: 0.000194 AC XY: 13AN XY: 66956
GnomAD4 exome AF: 0.000213 AC: 234AN: 1098154Hom.: 0 Cov.: 32 AF XY: 0.000220 AC XY: 80AN XY: 363522
GnomAD4 genome AF: 0.000151 AC: 17AN: 112721Hom.: 0 Cov.: 23 AF XY: 0.000115 AC XY: 4AN XY: 34883
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.355G>A (p.E119K) alteration is located in exon 3 (coding exon 3) of the PRKX gene. This alteration results from a G to A substitution at nucleotide position 355, causing the glutamic acid (E) at amino acid position 119 to be replaced by a lysine (K). 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