chrX-18929306-C-T
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 1P and 16B. PP3BP6_Very_StrongBS1BS2
The NM_000292.3(PHKA2):c.1246G>A(p.Gly416Arg) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000914 in 1,137,319 control chromosomes in the GnomAD database, including 5 homozygotes. There are 288 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_000292.3 missense, splice_region
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00479 AC: 537AN: 112098Hom.: 1 Cov.: 24 AF XY: 0.00440 AC XY: 151AN XY: 34324
GnomAD3 exomes AF: 0.00147 AC: 189AN: 128158Hom.: 2 AF XY: 0.00106 AC XY: 45AN XY: 42474
GnomAD4 exome AF: 0.000489 AC: 501AN: 1025167Hom.: 4 Cov.: 24 AF XY: 0.000436 AC XY: 137AN XY: 313907
GnomAD4 genome AF: 0.00480 AC: 538AN: 112152Hom.: 1 Cov.: 24 AF XY: 0.00439 AC XY: 151AN XY: 34388
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:2
- -
- -
PHKA2: PP3, BS1, BS2 -
not specified Benign:2
- -
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Glycogen storage disease IXa1 Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at