rs1338336697
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001205019.2(GK):āc.364A>Gā(p.Thr122Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000896 in 111,561 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001205019.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000896 AC: 1AN: 111561Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33773
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 9.53e-7 AC: 1AN: 1049786Hom.: 0 Cov.: 21 AF XY: 0.00 AC XY: 0AN XY: 328392
GnomAD4 genome AF: 0.00000896 AC: 1AN: 111561Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 33773
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.364A>G (p.T122A) alteration is located in exon 5 (coding exon 5) of the GK gene. This alteration results from a A to G substitution at nucleotide position 364, causing the threonine (T) at amino acid position 122 to be replaced by an alanine (A). 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