chr15-42068728-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_178034.4(PLA2G4D):āc.2444G>Cā(p.Arg815Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000168 in 1,606,490 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 (ā ).
Frequency
Consequence
NM_178034.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152234Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000213 AC: 5AN: 234730Hom.: 0 AF XY: 0.0000157 AC XY: 2AN XY: 127366
GnomAD4 exome AF: 0.0000138 AC: 20AN: 1454256Hom.: 0 Cov.: 30 AF XY: 0.0000152 AC XY: 11AN XY: 722802
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152234Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74382
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 18, 2024 | The c.2444G>C (p.R815T) alteration is located in exon 20 (coding exon 20) of the PLA2G4D gene. This alteration results from a G to C substitution at nucleotide position 2444, causing the arginine (R) at amino acid position 815 to be replaced by a threonine (T). 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