19-4844774-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_005817.5(PLIN3):c.854G>A(p.Gly285Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000138 in 1,448,604 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G285C) has been classified as Uncertain significance.
Frequency
Consequence
NM_005817.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PLIN3 | NM_005817.5 | c.854G>A | p.Gly285Asp | missense_variant | Exon 7 of 8 | ENST00000221957.9 | NP_005808.3 | |
PLIN3 | NM_001164189.2 | c.854G>A | p.Gly285Asp | missense_variant | Exon 7 of 8 | NP_001157661.1 | ||
PLIN3 | NM_001164194.2 | c.818G>A | p.Gly273Asp | missense_variant | Exon 7 of 8 | NP_001157666.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PLIN3 | ENST00000221957.9 | c.854G>A | p.Gly285Asp | missense_variant | Exon 7 of 8 | 1 | NM_005817.5 | ENSP00000221957.3 | ||
PLIN3 | ENST00000585479.5 | c.854G>A | p.Gly285Asp | missense_variant | Exon 7 of 8 | 1 | ENSP00000465596.1 | |||
PLIN3 | ENST00000592528.5 | c.818G>A | p.Gly273Asp | missense_variant | Exon 7 of 8 | 2 | ENSP00000467803.1 | |||
PLIN3 | ENST00000589163.5 | c.425G>A | p.Gly142Asp | missense_variant | Exon 4 of 5 | 3 | ENSP00000468476.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1448604Hom.: 0 Cov.: 33 AF XY: 0.00000139 AC XY: 1AN XY: 719410
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.854G>A (p.G285D) alteration is located in exon 7 (coding exon 6) of the PLIN3 gene. This alteration results from a G to A substitution at nucleotide position 854, causing the glycine (G) at amino acid position 285 to be replaced by an aspartic acid (D). 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