19-4524057-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001013706.3(PLIN5):c.863G>T(p.Arg288Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000766 in 1,305,084 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R288C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001013706.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PLIN5 | NM_001013706.3 | c.863G>T | p.Arg288Leu | missense_variant | 8/8 | ENST00000381848.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PLIN5 | ENST00000381848.7 | c.863G>T | p.Arg288Leu | missense_variant | 8/8 | 1 | NM_001013706.3 | P1 | |
PLIN5 | ENST00000589728.1 | n.360G>T | non_coding_transcript_exon_variant | 3/3 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 1AN: 62850Hom.: 0 AF XY: 0.0000283 AC XY: 1AN XY: 35276
GnomAD4 exome AF: 7.66e-7 AC: 1AN: 1305084Hom.: 0 Cov.: 31 AF XY: 0.00000157 AC XY: 1AN XY: 638598
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 22, 2023 | The c.863G>T (p.R288L) alteration is located in exon 8 (coding exon 7) of the PLIN5 gene. This alteration results from a G to T substitution at nucleotide position 863, causing the arginine (R) at amino acid position 288 to be replaced by a leucine (L). 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