rs17688076
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_012320.4(PLA2G15):c.285-2395C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.128 in 455,970 control chromosomes in the GnomAD database, including 4,279 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.11 ( 1005 hom., cov: 32)
Exomes 𝑓: 0.14 ( 3274 hom. )
Consequence
PLA2G15
NM_012320.4 intron
NM_012320.4 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.14
Genes affected
PLA2G15 (HGNC:17163): (phospholipase A2 group XV) Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene hydrolyzes lysophosphatidylcholine to glycerophosphorylcholine and a free fatty acid. This enzyme is present in the plasma and thought to be associated with high-density lipoprotein. A later paper contradicts the function of this gene. It demonstrates that this gene encodes a lysosomal enzyme instead of a lysophospholipase and has both calcium-independent phospholipase A2 and transacylase activities. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.74).
BA1
?
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.187 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PLA2G15 | NM_012320.4 | c.285-2395C>A | intron_variant | ENST00000219345.10 | |||
PLA2G15 | NM_001363551.2 | c.285-2395C>A | intron_variant | ||||
PLA2G15 | XM_011522979.3 | c.285-898C>A | intron_variant | ||||
PLA2G15 | XM_011522980.4 | c.285-898C>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PLA2G15 | ENST00000219345.10 | c.285-2395C>A | intron_variant | 1 | NM_012320.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.108 AC: 16481AN: 152142Hom.: 1001 Cov.: 32
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GnomAD3 exomes AF: 0.139 AC: 17820AN: 127854Hom.: 1385 AF XY: 0.142 AC XY: 9909AN XY: 69956
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GnomAD4 exome AF: 0.138 AC: 42046AN: 303710Hom.: 3274 Cov.: 0 AF XY: 0.143 AC XY: 24800AN XY: 172956
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GnomAD4 genome ? AF: 0.108 AC: 16504AN: 152260Hom.: 1005 Cov.: 32 AF XY: 0.113 AC XY: 8444AN XY: 74426
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at