7-95405373-A-C
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_000305.3(PON2):āc.1022T>Gā(p.Leu341Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000239 in 1,461,692 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_000305.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251212Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135786
GnomAD4 exome AF: 0.0000239 AC: 35AN: 1461692Hom.: 0 Cov.: 30 AF XY: 0.0000344 AC XY: 25AN XY: 727150
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1022T>G (p.L341R) alteration is located in exon 9 (coding exon 9) of the PON2 gene. This alteration results from a T to G substitution at nucleotide position 1022, causing the leucine (L) at amino acid position 341 to be replaced by an arginine (R). 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