8-144504634-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_005309.3(GPT):c.193C>T(p.Arg65Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000197 in 1,613,296 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005309.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000191 AC: 29AN: 152226Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.000231 AC: 58AN: 251104Hom.: 0 AF XY: 0.000265 AC XY: 36AN XY: 135838
GnomAD4 exome AF: 0.000198 AC: 289AN: 1460952Hom.: 0 Cov.: 35 AF XY: 0.000217 AC XY: 158AN XY: 726770
GnomAD4 genome AF: 0.000190 AC: 29AN: 152344Hom.: 0 Cov.: 34 AF XY: 0.000255 AC XY: 19AN XY: 74486
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.193C>T (p.R65C) alteration is located in exon 2 (coding exon 2) of the GPT gene. This alteration results from a C to T substitution at nucleotide position 193, causing the arginine (R) at amino acid position 65 to be replaced by a cysteine (C). 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