chr19-48074830-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_003706.3(PLA2G4C):c.943G>A(p.Glu315Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000955 in 1,612,914 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003706.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PLA2G4C | NM_003706.3 | c.943G>A | p.Glu315Lys | missense_variant | 12/17 | ENST00000599921.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PLA2G4C | ENST00000599921.6 | c.943G>A | p.Glu315Lys | missense_variant | 12/17 | 1 | NM_003706.3 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000657 AC: 10AN: 152158Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000148 AC: 37AN: 249854Hom.: 0 AF XY: 0.000193 AC XY: 26AN XY: 135040
GnomAD4 exome AF: 0.0000986 AC: 144AN: 1460638Hom.: 0 Cov.: 30 AF XY: 0.000121 AC XY: 88AN XY: 726618
GnomAD4 genome ? AF: 0.0000657 AC: 10AN: 152276Hom.: 0 Cov.: 31 AF XY: 0.0000537 AC XY: 4AN XY: 74460
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 04, 2022 | The c.943G>A (p.E315K) alteration is located in exon 12 (coding exon 11) of the PLA2G4C gene. This alteration results from a G to A substitution at nucleotide position 943, causing the glutamic acid (E) at amino acid position 315 to be replaced by a lysine (K). 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