16-68249385-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_012320.4(PLA2G15):āc.223A>Gā(p.Ile75Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000684 in 1,461,856 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_012320.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PLA2G15 | NM_012320.4 | c.223A>G | p.Ile75Val | missense_variant | 2/6 | ENST00000219345.10 | NP_036452.1 | |
PLA2G15 | NM_001363551.2 | c.223A>G | p.Ile75Val | missense_variant | 2/6 | NP_001350480.1 | ||
PLA2G15 | XM_011522979.3 | c.223A>G | p.Ile75Val | missense_variant | 2/7 | XP_011521281.1 | ||
PLA2G15 | XM_011522980.4 | c.223A>G | p.Ile75Val | missense_variant | 2/7 | XP_011521282.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PLA2G15 | ENST00000219345.10 | c.223A>G | p.Ile75Val | missense_variant | 2/6 | 1 | NM_012320.4 | ENSP00000219345.5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461856Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 727234
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 28, 2022 | The c.223A>G (p.I75V) alteration is located in exon 2 (coding exon 2) of the PLA2G15 gene. This alteration results from a A to G substitution at nucleotide position 223, causing the isoleucine (I) at amino acid position 75 to be replaced by a valine (V). 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