15-42142195-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_213600.4(PLA2G4F):c.2339G>A(p.Arg780Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000416 in 1,611,004 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_213600.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152224Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000969 AC: 24AN: 247586Hom.: 0 AF XY: 0.000127 AC XY: 17AN XY: 133690
GnomAD4 exome AF: 0.0000404 AC: 59AN: 1458660Hom.: 0 Cov.: 35 AF XY: 0.0000538 AC XY: 39AN XY: 725340
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152344Hom.: 0 Cov.: 33 AF XY: 0.0000537 AC XY: 4AN XY: 74490
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2339G>A (p.R780Q) alteration is located in exon 20 (coding exon 20) of the PLA2G4F gene. This alteration results from a G to A substitution at nucleotide position 2339, causing the arginine (R) at amino acid position 780 to be replaced by a glutamine (Q). 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